FYVE and coiled-coil domain containing 1 (FYCO1) - coding DNA reference sequence

(used for variant description)

(last modified November 13, 2023)


This file was created to facilitate the description of sequence variants on transcript NM_024513.3 in the FYCO1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering FYCO1 transcript NM_024513.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5035
                          accctcttggtgtgcgcgtcatggccgtcagcacc       c.-181

 .         .         .         .         .         .                g.5095
 gcgttcccgtcctcttccgcttggccccagaaagtttcggttctgcccggcggtggaccc       c.-121

 .        | 02.         .         .         .         .             g.15854
 acgagcgc | gtgccaccatggagtctgaccactgctgagcagacagccaccgagggccgaa    c.-61

 .         .         .         .         .         .                g.15914
 attctgagccttcctctggacccaggcaggagacatacagacaagaaaggcaaactcacc       c.-1

          .         .         .         .         .      | 03  .    g.19153
 ATGGCCTCCACCAATGCAGAGAGCCAGCTCCAGAGAATCATCCGAGACTTGCAAG | ATGCT    c.60
 M  A  S  T  N  A  E  S  Q  L  Q  R  I  I  R  D  L  Q  D |   A      p.20

          .         .         .         .         .         .       g.19213
 GTGACAGAACTAAGCAAAGAATTTCAGGAAGCAGGGGAACCCATCACGGATGACAGCACC       c.120
 V  T  E  L  S  K  E  F  Q  E  A  G  E  P  I  T  D  D  S  T         p.40

          .         .         .         .   | 04     .         .    g.21012
 AGCTTGCATAAATTTTCTTATAAACTTGAGTATCTCCTGCAA | TTTGATCAGAAAGAGAAG    c.180
 S  L  H  K  F  S  Y  K  L  E  Y  L  L  Q   | F  D  Q  K  E  K      p.60

          .         .         .         .         .         .       g.21072
 GCCACCCTCCTGGGCAACAAGAAGGACTACTGGGATTACTTCTGTGCCTGCCTGGCCAAG       c.240
 A  T  L  L  G  N  K  K  D  Y  W  D  Y  F  C  A  C  L  A  K         p.80

          .         .         .         .         | 05         .    g.25491
 GTGAAAGGAGCCAATGATGGGATCCGCTTTGTCAAGTCTATCTCAGAG | CTCCGAACATCC    c.300
 V  K  G  A  N  D  G  I  R  F  V  K  S  I  S  E   | L  R  T  S      p.100

          .         .         .         .         .         .       g.25551
 TTGGGGAAAGGAAGAGCATTTATTCGCTACTCCTTGGTGCACCAGAGGTTGGCAGACACC       c.360
 L  G  K  G  R  A  F  I  R  Y  S  L  V  H  Q  R  L  A  D  T         p.120

          .         .         .      | 06  .         .         .    g.27618
 TTACAGCAGTGCTTCATGAACACCAAAGTGACCAG | TGACTGGTACTATGCAAGAAGCCCC    c.420
 L  Q  Q  C  F  M  N  T  K  V  T  S  |  D  W  Y  Y  A  R  S  P      p.140

          .         .         .         .         .         .       g.27678
 TTTCTGCAGCCAAAGCTGAGCTCGGACATTGTGGGCCAACTCTATGAGCTGACTGAGGTT       c.480
 F  L  Q  P  K  L  S  S  D  I  V  G  Q  L  Y  E  L  T  E  V         p.160

          .         .         .         .         .          | 07    g.31060
 CAGTTTGACCTGGCGTCGAGGGGCTTTGACTTGGATGCTGCCTGGCCAACATTTGCCAG | G    c.540
 Q  F  D  L  A  S  R  G  F  D  L  D  A  A  W  P  T  F  A  R  |      p.180

          .         .         .         .         .         .       g.31120
 AGGACGCTGACCACTGGCTCTTCTGCTTACCTGTGGAAACCCCCTAGCCGCAGCTCCAGC       c.600
 R  T  L  T  T  G  S  S  A  Y  L  W  K  P  P  S  R  S  S  S         p.200

          .         .         . | 08       .         .         .    g.32151
 ATGAGCAGCTTGGTGAGCAGCTACCTGCAG | ACTCAAGAGATGGTGTCCAACTTTGACCTG    c.660
 M  S  S  L  V  S  S  Y  L  Q   | T  Q  E  M  V  S  N  F  D  L      p.220

          .         .         .         .         .         .       g.32211
 AACAGCCCCCTAAACAACGAGGCATTGGAGGGCTTTGATGAGATGCGACTAGAGCTGGAC       c.720
 N  S  P  L  N  N  E  A  L  E  G  F  D  E  M  R  L  E  L  D         p.240

          .         .         .         .         .         .       g.32271
 CAGTTGGAGGTGCGGGAGAAGCAGCTACGGGAGCGCATGCAGCAGCTGGACAGAGAGAAC       c.780
 Q  L  E  V  R  E  K  Q  L  R  E  R  M  Q  Q  L  D  R  E  N         p.260

          .         .         .         .         .         .       g.32331
 CAGGAGCTGAGGGCAGCTGTCAGCCAGCAAGGGGAGCAACTGCAGACAGAGAGGGAGAGG       c.840
 Q  E  L  R  A  A  V  S  Q  Q  G  E  Q  L  Q  T  E  R  E  R         p.280

          .         .         .         .         .         .       g.32391
 GGGCGCACTGCAGCGGAGGACAACGTTCGCCTCACTTGCTTGGTAGCTGAGCTCCAGAAG       c.900
 G  R  T  A  A  E  D  N  V  R  L  T  C  L  V  A  E  L  Q  K         p.300

          .         .         .         .         .         .       g.32451
 CAGTGGGAGGTCACCCAGGCCACCCAGAACACTGTGAAGGAGCTGCAGACATGCCTGCAG       c.960
 Q  W  E  V  T  Q  A  T  Q  N  T  V  K  E  L  Q  T  C  L  Q         p.320

          .         .         .         .         .         .       g.32511
 GGCCTGGAGCTAGGAGCAGCAGAGAAGGAGGAGGACTACCACACAGCCCTGCGGCGGCTG       c.1020
 G  L  E  L  G  A  A  E  K  E  E  D  Y  H  T  A  L  R  R  L         p.340

          .         .         .         .         .         .       g.32571
 GAGTCCATGCTGCAGCCCTTGGCACAGGAGCTTGAGGCCACACGGGACTCACTGGACAAG       c.1080
 E  S  M  L  Q  P  L  A  Q  E  L  E  A  T  R  D  S  L  D  K         p.360

          .         .         .         .         .         .       g.32631
 AAAAACCAGCATTTAGCCAGCTTCCCAGGCTGGCTAGCCATGGCTCAGCAGAAGGCAGAT       c.1140
 K  N  Q  H  L  A  S  F  P  G  W  L  A  M  A  Q  Q  K  A  D         p.380

          .         .         .         .         .         .       g.32691
 ACGGCATCAGACACAAAGGGCCGGCAAGAACCTATTCCCAGTGATGCGGCCCAGGAGATG       c.1200
 T  A  S  D  T  K  G  R  Q  E  P  I  P  S  D  A  A  Q  E  M         p.400

          .         .         .         .         .         .       g.32751
 CAGGAGCTAGGGGAGAAGCTTCAAGCCCTAGAAAGGGAGAGAACCAAGGTCGAGGAGGTC       c.1260
 Q  E  L  G  E  K  L  Q  A  L  E  R  E  R  T  K  V  E  E  V         p.420

          .         .         .         .         .         .       g.32811
 AACAGACAGCAGAGTGCCCAACTGGAACAGCTGGTCAAGGAGCTTCAGCTGAAAGAGGAT       c.1320
 N  R  Q  Q  S  A  Q  L  E  Q  L  V  K  E  L  Q  L  K  E  D         p.440

          .         .         .         .         .         .       g.32871
 GCCCGGGCCAGCCTGGAGCGCCTGGTGAAGGAGATGGCCCCACTCCAGGAGGAGTTGTCT       c.1380
 A  R  A  S  L  E  R  L  V  K  E  M  A  P  L  Q  E  E  L  S         p.460

          .         .         .         .         .         .       g.32931
 GGGAAGGGACAGGAGGCAGACCAGCTCTGGCGACGGCTGCAGGAGTTGCTGGCCCACACG       c.1440
 G  K  G  Q  E  A  D  Q  L  W  R  R  L  Q  E  L  L  A  H  T         p.480

          .         .         .         .         .         .       g.32991
 AGCTCCTGGGAGGAGGAGCTAGCAGAGTTGAGGCGGGAGAAAAAACAGCAACAGGAGGAG       c.1500
 S  S  W  E  E  E  L  A  E  L  R  R  E  K  K  Q  Q  Q  E  E         p.500

          .         .         .         .         .         .       g.33051
 AAGGAGCTGCTGGAGCAGGAGGTCAGGTCTCTGACCCGGCAGCTGCAGTTCCTGGAGACC       c.1560
 K  E  L  L  E  Q  E  V  R  S  L  T  R  Q  L  Q  F  L  E  T         p.520

          .         .         .         .         .         .       g.33111
 CAGCTGGCACAGGTGAGCCAACATGTGAGTGACCTGGAGGAGCAGAAGAAGCAGCTCATT       c.1620
 Q  L  A  Q  V  S  Q  H  V  S  D  L  E  E  Q  K  K  Q  L  I         p.540

          .         .         .         .         .         .       g.33171
 CAGGACAAAGACCACCTCAGCCAGCAGGTGGGTATGCTCGAGCGGCTTGCTGGGCCGCCT       c.1680
 Q  D  K  D  H  L  S  Q  Q  V  G  M  L  E  R  L  A  G  P  P         p.560

          .         .         .         .         .         .       g.33231
 GGCCCAGAACTGCCAGTGGCAGGTGAGAAGAATGAGGCCCTGGTCCCTGTGAACTCCAGT       c.1740
 G  P  E  L  P  V  A  G  E  K  N  E  A  L  V  P  V  N  S  S         p.580

          .         .         .         .         .         .       g.33291
 CTGCAAGAGGCCTGGGGGAAGCCAGAGGAGGAGCAGAGGGGCCTGCAGGAGGCACAGTTA       c.1800
 L  Q  E  A  W  G  K  P  E  E  E  Q  R  G  L  Q  E  A  Q  L         p.600

          .         .         .         .         .         .       g.33351
 GACGATACCAAGGTGCAAGAGGGCAGCCAGGAGGAAGAGCTCCGGCAGGCCAACAGGGAG       c.1860
 D  D  T  K  V  Q  E  G  S  Q  E  E  E  L  R  Q  A  N  R  E         p.620

          .         .         .         .         .         .       g.33411
 CTGGAGAAGGAGCTACAGAATGTGGTCGGGCGTAACCAGCTCCTGGAGGGCAAGCTGCAA       c.1920
 L  E  K  E  L  Q  N  V  V  G  R  N  Q  L  L  E  G  K  L  Q         p.640

          .         .         .         .         .         .       g.33471
 GCCCTGCAGGCCGATTACCAGGCTTTGCAGCAGCGGGAATCAGCCATCCAGGGCTCCTTG       c.1980
 A  L  Q  A  D  Y  Q  A  L  Q  Q  R  E  S  A  I  Q  G  S  L         p.660

          .         .         .         .         .         .       g.33531
 GCCTCCCTGGAGGCCGAGCAGGCCAGCATCCGGCACTTGGGTGACCAGATGGAGGCGAGC       c.2040
 A  S  L  E  A  E  Q  A  S  I  R  H  L  G  D  Q  M  E  A  S         p.680

          .         .         .         .         .         .       g.33591
 TTGCTGGCTGTAAGGAAGGCCAAGGAGGCCATGAAAGCCCAGATGGCAGAGAAGGAGGCC       c.2100
 L  L  A  V  R  K  A  K  E  A  M  K  A  Q  M  A  E  K  E  A         p.700

          .         .         .         .         .         .       g.33651
 ATTCTACAGAGCAAGGAGGGCGAGTGTCAGCAGCTGCGGGAGGAGGTGGAGCAGTGCCAG       c.2160
 I  L  Q  S  K  E  G  E  C  Q  Q  L  R  E  E  V  E  Q  C  Q         p.720

          .         .         .         .         .         .       g.33711
 CAACTGGCAGAAGCCCGGCACAGAGAGCTTAGGGCTCTCGAGAGCCAGTGCCAGCAGCAG       c.2220
 Q  L  A  E  A  R  H  R  E  L  R  A  L  E  S  Q  C  Q  Q  Q         p.740

          .         .         .         .         .         .       g.33771
 ACCCAGCTGATTGAGGTCCTCACAGCAGAGAAAGGCCAACAGGGAGTTGGCCCACCCACT       c.2280
 T  Q  L  I  E  V  L  T  A  E  K  G  Q  Q  G  V  G  P  P  T         p.760

          .         .         .         .         .         .       g.33831
 GACAATGAAGCCCGTGAGCTGGCTGCCCAGCTAGCCCTGTCTCAGGCGCAGCTGGAAGTC       c.2340
 D  N  E  A  R  E  L  A  A  Q  L  A  L  S  Q  A  Q  L  E  V         p.780

          .         .         .         .         .         .       g.33891
 CATCAGGGGGAGGTCCAACGGCTGCAGGCTCAGGTGGTGGACCTCCAGGCCAAGATGCGG       c.2400
 H  Q  G  E  V  Q  R  L  Q  A  Q  V  V  D  L  Q  A  K  M  R         p.800

          .         .         .         .         .         .       g.33951
 GCAGCCCTGGATGACCAGGACAAGGTGCAGAGCCAGCTAAGCATGGCTGAGGCCGTCCTG       c.2460
 A  A  L  D  D  Q  D  K  V  Q  S  Q  L  S  M  A  E  A  V  L         p.820

          .         .         .         .         .         .       g.34011
 AGGGAGCACAAAACCCTTGTGCAGCAGCTGAAGGAGCAGAATGAAGCCCTTAACAGAGCC       c.2520
 R  E  H  K  T  L  V  Q  Q  L  K  E  Q  N  E  A  L  N  R  A         p.840

          .         .         .         .         .         .       g.34071
 CATGTCCAGGAGCTGCTGCAATGCTCGGAGCGTGAAGGGGCACTGCAGGAGGAGAGGGCC       c.2580
 H  V  Q  E  L  L  Q  C  S  E  R  E  G  A  L  Q  E  E  R  A         p.860

          .         .         .         .         .         .       g.34131
 GATGAGGCCCAGCAGAGGGAGGAGGAGCTGCGGGCCCTGCAGGAGGAGCTGTCCCAGGCC       c.2640
 D  E  A  Q  Q  R  E  E  E  L  R  A  L  Q  E  E  L  S  Q  A         p.880

          .         .         .         .         .         .       g.34191
 AAATGCAGCTCCGAGGAAGCACAGCTGGAGCACGCTGAGCTGCAAGAGCAGCTGCACCGG       c.2700
 K  C  S  S  E  E  A  Q  L  E  H  A  E  L  Q  E  Q  L  H  R         p.900

          .         .         .         .         .         .       g.34251
 GCCAACACAGACACAGCTGAGCTGGGCATCCAGGTTTGCGCACTGACCGTGGAAAAGGAG       c.2760
 A  N  T  D  T  A  E  L  G  I  Q  V  C  A  L  T  V  E  K  E         p.920

          .         .         .         .         .         .       g.34311
 CGAGTGGAGGAGGCACTGGCCTGTGCTGTCCAGGAGCTCCAGGACGCCAAAGAGGCAGCC       c.2820
 R  V  E  E  A  L  A  C  A  V  Q  E  L  Q  D  A  K  E  A  A         p.940

          .         .         .         .         .         .       g.34371
 TCAAGGGAGCGAGAGGGCCTGGAGCGCCAAGTAGCTGGGCTGCAGCAAGAGAAGGAGAGC       c.2880
 S  R  E  R  E  G  L  E  R  Q  V  A  G  L  Q  Q  E  K  E  S         p.960

          .         .         .         .         .         .       g.34431
 TTGCAGGAGAAGCTGAAGGCGGCCAAGGCAGCAGCCGGCTCACTGCCTGGCCTGCAGGCC       c.2940
 L  Q  E  K  L  K  A  A  K  A  A  A  G  S  L  P  G  L  Q  A         p.980

          .         .         .         .         .         .       g.34491
 CAGCTCGCCCAGGCAGAGCAGCGGGCCCAGAGCCTCCAAGAGGCTGCACACCAGGAGCTC       c.3000
 Q  L  A  Q  A  E  Q  R  A  Q  S  L  Q  E  A  A  H  Q  E  L         p.1000

          .         .         .         .         .        | 09.    g.35702
 AACACCCTCAAGTTCCAGCTGAGTGCTGAAATCATGGACTACCAGAGCAGACTTAAG | AAT    c.3060
 N  T  L  K  F  Q  L  S  A  E  I  M  D  Y  Q  S  R  L  K   | N      p.1020

          .         .         .         .         .         .       g.35762
 GCTGGTGAAGAGTGCAAGAGCCTCAGGGGCCAGCTTGAGGAGCAAGGCCGGCAGCTGCAG       c.3120
 A  G  E  E  C  K  S  L  R  G  Q  L  E  E  Q  G  R  Q  L  Q         p.1040

          .         .         . | 10       .         .         .    g.36400
 GCTGCTGAGGAAGCTGTGGAGAAGCTGAAG | GCCACCCAAGCAGACATGGGAGAGAAGCTG    c.3180
 A  A  E  E  A  V  E  K  L  K   | A  T  Q  A  D  M  G  E  K  L      p.1060

          .         .         .         .         .         .       g.36460
 AGCTGCACTAGCAACCATCTTGCAGAGTGCCAGGCGGCCATGCTGAGGAAGGACAAGGAG       c.3240
 S  C  T  S  N  H  L  A  E  C  Q  A  A  M  L  R  K  D  K  E         p.1080

          .         .          | 11        .         .         .    g.38463
 GGGGCTGCCCTGCGTGAAGACCTAGAAAG | GACCCAGAAGGAACTCGAAAAAGCCACAACA    c.3300
 G  A  A  L  R  E  D  L  E  R  |  T  Q  K  E  L  E  K  A  T  T      p.1100

          .         .         .         .         .         .       g.38523
 AAAATCCAAGAGTATTACAACAAACTCTGCCAGGAGGTGACAAATCGTGAGAGGAATGAC       c.3360
 K  I  Q  E  Y  Y  N  K  L  C  Q  E  V  T  N  R  E  R  N  D         p.1120

          .         .         .         .         .         .       g.38583
 CAGAAGATGCTTGCTGACCTGGATGACCTCAACAGAACCAAGAAGTATCTCGAGGAGCGG       c.3420
 Q  K  M  L  A  D  L  D  D  L  N  R  T  K  K  Y  L  E  E  R         p.1140

          .        | 12.         .         .         .         .    g.41325
 CTGATAGAGCTGCTCAG | GGACAAGGATGCTCTCTGGCAGAAGTCAGATGCCCTGGAATTC    c.3480
 L  I  E  L  L  R  |  D  K  D  A  L  W  Q  K  S  D  A  L  E  F      p.1160

          .         .         .         .         .         .       g.41385
 CAGCAGAAGCTCAGTGCTGAGGAGAGATGGCTCGGAGACACAGAGGCAAACCACTGCCTC       c.3540
 Q  Q  K  L  S  A  E  E  R  W  L  G  D  T  E  A  N  H  C  L         p.1180

          .         .         .         .        | 13.         .    g.42218
 GACTGTAAGCGGGAGTTCAGCTGGATGGTGCGGCGGCACCACTGCAG | GATATGTGGCCGC    c.3600
 D  C  K  R  E  F  S  W  M  V  R  R  H  H  C  R  |  I  C  G  R      p.1200

          .         .         .         .         .         .       g.42278
 ATCTTCTGTTACTACTGCTGCAACAACTACGTCCTGAGCAAGCACGGTGGCAAAAAGGAG       c.3660
 I  F  C  Y  Y  C  C  N  N  Y  V  L  S  K  H  G  G  K  K  E         p.1220

          .         .         .         .         .         .       g.42338
 CGCTGCTGCCGAGCCTGTTTCCAGAAGCTCAGTGAAGGCCCTGGCTCCCCTGATAGCAGT       c.3720
 R  C  C  R  A  C  F  Q  K  L  S  E  G  P  G  S  P  D  S  S         p.1240

          .         .         .         .         .         .       g.42398
 GGCTCAGGCACTAGCCAGGGAGAGCCCAGCCCTGCACTGTCACCAGCCTCACCTGGGCCC       c.3780
 G  S  G  T  S  Q  G  E  P  S  P  A  L  S  P  A  S  P  G  P         p.1260

          .          | 14        .         .         .         .    g.45472
 CAGGCCACAGGAGGCCAAG | GAGCAAATACAGACTACAGGCCACCGGACGACGCTGTGTTT    c.3840
 Q  A  T  G  G  Q  G |   A  N  T  D  Y  R  P  P  D  D  A  V  F      p.1280

          .         .         .         .         .         .       g.45532
 GATATCATCACAGATGAGGAATTGTGCCAGATACAGGAGTCCGGCTCCTCTTTGCCTGAA       c.3900
 D  I  I  T  D  E  E  L  C  Q  I  Q  E  S  G  S  S  L  P  E         p.1300

          .         .         .         .     | 15   .         .    g.64297
 ACACCCACTGAAACTGATTCTCTCGACCCAAATGCGGCTGAACA | GGATACTACATCAACC    c.3960
 T  P  T  E  T  D  S  L  D  P  N  A  A  E  Q  |  D  T  T  S  T      p.1320

          .         .         .         .         .         .       g.64357
 TCGCTAACGCCTGAGGACACTGAAGACATGCCCGTGGGGCAGGATTCGGAAATCTGCCTG       c.4020
 S  L  T  P  E  D  T  E  D  M  P  V  G  Q  D  S  E  I  C  L         p.1340

          .         . | 16       .         .         .         .    g.69583
 CTGAAGTCTGGAGAACTGAT | GATCAAAGTACCCCTCACAGTGGATGAGATCGCCAGCTTC    c.4080
 L  K  S  G  E  L  M  |  I  K  V  P  L  T  V  D  E  I  A  S  F      p.1360

          .         .         .         .         .         .       g.69643
 GGGGAGGGTAGCAGGGAGCTGTTTGTGAGGTCCAGCACCTACAGCCTGATCCCCATCACT       c.4140
 G  E  G  S  R  E  L  F  V  R  S  S  T  Y  S  L  I  P  I  T         p.1380

          .         .         .         .         .         .       g.69703
 GTGGCCGAGGCAGGCCTCACCATCAGCTGGGTCTTCTCCTCTGACCCCAAGAGCATCTCC       c.4200
 V  A  E  A  G  L  T  I  S  W  V  F  S  S  D  P  K  S  I  S         p.1400

          .         .         .         .         .  | 17      .    g.77068
 TTCAGTGTGGTCTTCCAGGAGGCCGAGGACACACCGCTGGATCAGTGTAAG | GTCCTCATT    c.4260
 F  S  V  V  F  Q  E  A  E  D  T  P  L  D  Q  C  K   | V  L  I      p.1420

          .         .         .         .         .         .       g.77128
 CCCACGACCCGATGCAACTCCCACAAGGAGAACATCCAGGGCCAGCTCAAGGTTCGCACA       c.4320
 P  T  T  R  C  N  S  H  K  E  N  I  Q  G  Q  L  K  V  R  T         p.1440

          .         .         .         .  | 18      .         .    g.79003
 CCCGGCATCTACATGCTCATCTTCGACAATACCTTCTCAAG | GTTTGTCTCTAAAAAGGTA    c.4380
 P  G  I  Y  M  L  I  F  D  N  T  F  S  R  |  F  V  S  K  K  V      p.1460

          .         .         .         .         .                 g.79060
 TTTTATCACTTGACGGTTGATCGGCCTGTGATCTACGATGGAAGTGATTTCCTGTAG          c.4437
 F  Y  H  L  T  V  D  R  P  V  I  Y  D  G  S  D  F  L  X            p.1478

          .         .         .         .         .         .       g.79120
 cttcagcacctcagtaacttcacttcatccacaggaaacactgctcttcctcacctgtca       c.*60

          .         .         .         .         .         .       g.79180
 cataaagcatttttttaaaaagtcagctgctccaaaatcatcaactcagcccctgggctg       c.*120

          .         .         .         .         .         .       g.79240
 cccctcagaggcggtgtctggggaggactttgtgctcagcactctgcaccggccactctt       c.*180

          .         .         .         .         .         .       g.79300
 agcccccgaggcgttgaagggctcaggcaatgtttccattaagtagagactcagctgttg       c.*240

          .         .         .         .         .         .       g.79360
 tcacacccaaagggatgctctgccaaaggtttaaacacccaggagaccatcagcctctcc       c.*300

          .         .         .         .         .         .       g.79420
 tgggagcacagttggctacaggcctcttgtggagagtttcacgggcaggggtgattccaa       c.*360

          .         .         .         .         .         .       g.79480
 cttctgcctgtggagagattttctgccctgccccaccagggccctgcatgttggagactg       c.*420

          .         .         .         .         .         .       g.79540
 agctgggtgcactggccatgccctgtgaatcctcaggctgtgacgccctcaggtactcct       c.*480

          .         .         .         .         .         .       g.79600
 gggaaaaggaggtacacagccatcatgcgagtcggtgccaggggaccccccggagatcct       c.*540

          .         .         .         .         .         .       g.79660
 gaccagctcctccagtcatgctcttgtccctcactgccccagtaagctggaggctgctcc       c.*600

          .         .         .         .         .         .       g.79720
 agaactcagcagtgttggaggggcctctaagctgcactctctttctggcccttttgtctg       c.*660

          .         .         .         .         .         .       g.79780
 ggtgattctgtcctcaaataaagcccttcactcagccagacctctccacagctcaaagca       c.*720

          .         .         .         .         .         .       g.79840
 ttgccctaagaatcagaagtaaagataatccaagagcaaaacccactgtacttggggcct       c.*780

          .         .         .         .         .         .       g.79900
 gcaatggctgtgtgtacactacatctaatgcccaaatgccagccagtgtggatgttgtga       c.*840

          .         .         .         .         .         .       g.79960
 ccacagagcaggattgtgcattggctttagagctactcctcagctgatggcccacttttg       c.*900

          .         .         .         .         .         .       g.80020
 tttatataaataagagcttctgccccacctgcagacatgtttactaatgatcatagccag       c.*960

          .         .         .         .         .         .       g.80080
 gattagaaccactttcaaacattggggccttcttaacaaaagtctttgataacttaagaa       c.*1020

          .         .         .         .         .         .       g.80140
 ccaaagtaacagagtaaacagaggcatgatggatccctgggccccactcccctcctgaca       c.*1080

          .         .         .         .         .         .       g.80200
 ggttccccaacagcccatttgcccacttcccactgctcagcccacaccagacctccagga       c.*1140

          .         .         .         .         .         .       g.80260
 gacatccccccttgaggcagagagatcctgttccctattcccagacaagaattatttaat       c.*1200

          .         .         .         .         .         .       g.80320
 cttccctgttctctgtggtccttttcttccccaacaacagatagctcaccttggacagct       c.*1260

          .         .         .         .         .         .       g.80380
 cttcgtcccttgttcatggaaccagctgcctgcagtcaggccccaggttcttccatgggt       c.*1320

          .         .         .         .         .         .       g.80440
 gaacagagcatctgacaaaaggtcccagtttggccaggggtgagggagagagcaccagac       c.*1380

          .         .         .         .         .         .       g.80500
 aggctatccgagaatctgagagctgggcccggcagttcctccagctacccttgtgaccta       c.*1440

          .         .         .         .         .         .       g.80560
 agtccagtcacacatttcccaaagtttctctttgtcataaccctggtctggctggttttg       c.*1500

          .         .         .         .         .         .       g.80620
 agggcttgagaatgggtcagggactccaggccaagtccaacagagaccccaaacccacca       c.*1560

          .         .         .         .         .         .       g.80680
 cacaccagcagccacaacctcaccaccaacaaagaggacttttgtggggccacaagtaag       c.*1620

          .         .         .         .         .         .       g.80740
 aggtcatttctggaatggactcagacctttaaacaggagagttgagcacttccagtcagt       c.*1680

          .         .         .         .         .         .       g.80800
 ttttaagcaaggcatggggaacagggaatagaacctttcaaagaggttgcccagagaaaa       c.*1740

          .         .         .         .         .         .       g.80860
 gctgggcctcttgcattcggcttccttggagcagcctcttctggcagaaagccatcaggt       c.*1800

          .         .         .         .         .         .       g.80920
 gctcaatcatcttctcctggccaaggctctgaccatgcttagtactggaatagaggtggc       c.*1860

          .         .         .         .         .         .       g.80980
 caggcccccagcgactcttcttggcctgatgtttgtcctcacaggcatgccacgtggcct       c.*1920

          .         .         .         .         .         .       g.81040
 gagatgattcagaacaaatcatgctaactttgaatccatccagccacttgcaaatgataa       c.*1980

          .         .         .         .         .         .       g.81100
 tcagaagtcagcttgttcactgttagaaagaaactaacaaaagagaacccagagcaatct       c.*2040

          .         .         .         .         .         .       g.81160
 agaatctttgagtgcttggctttccaaggatactgcggagactctggccaagctgatgac       c.*2100

          .         .         .         .         .         .       g.81220
 cttctgaagtgtcactggcaccatatgcaacaagaaccaccattcactgagtagctaatg       c.*2160

          .         .         .         .         .         .       g.81280
 ggtttggggcctgggacattccatctgaggtccttcctgaacatgtcactccacagcaga       c.*2220

          .         .         .         .         .         .       g.81340
 ggaccggttgcagcttacccagaaccactcctccaggagagctggatgttttgcgtgcaa       c.*2280

          .         .         .         .         .         .       g.81400
 caccttgagcactgactgctattgttcaaaaaaagcctttgctgcattcggaggactgcc       c.*2340

          .         .         .         .         .         .       g.81460
 ccgtgccctgaggtgacttcctaactatgtggtttcattagcgaatttattttttgtgct       c.*2400

          .         .         .         .         .         .       g.81520
 gggtggacatttgtattttgttaggttgctgtttaagctcaagtttgctgtgctctctgc       c.*2460

          .         .         .         .         .         .       g.81580
 agctacaaaacatcttggcatatttaagagtggcttttataaatagctttattctgatat       c.*2520

          .         .         .         .         .         .       g.81640
 taatcagattcccaactttactgagaattaaggactggggtactttaaagaaatgcaaat       c.*2580

          .         .         .         .         .         .       g.81700
 agcaattgaagaaccactgctgcaggtggtagccctggctagactgaattacactagaaa       c.*2640

          .         .         .         .         .         .       g.81760
 tcagccagaaggaagcgtccttgggatcccagatcactctttttttttttttttaaaagg       c.*2700

          .         .         .         .         .         .       g.81820
 ggcagccccttgatggctcatctctctgaataacagttacgtcttcatatcgataccaga       c.*2760

          .         .         .         .         .         .       g.81880
 tgccttcttcatcatgccactgaagccactcaccaccttcaagaacatgccaacctctgt       c.*2820

          .         .         .         .         .         .       g.81940
 cagattcacttacccacaaacaaggaggcacgtttggcacaaagtgttgtcctccaggtc       c.*2880

          .         .         .         .         .         .       g.82000
 caagtggactctacagagtgcttgacctcaacacactggattccaggtggactggaccaa       c.*2940

          .         .         .         .         .         .       g.82060
 gagcaggcaaagacacgggaactgaaaaactccacagggtttggagaatagaaatgaaaa       c.*3000

          .         .         .         .         .         .       g.82120
 gccacgtcatataactcaagaataaatggtgttttggaaattttaaaattatcatcgaag       c.*3060

          .         .         .         .         .         .       g.82180
 gtggtgaaactatttcaggcccaaatgaaaggaaatcgccagttggggatgaaatcacag       c.*3120

          .         .         .         .         .         .       g.82240
 agcctgtgttttatgatatggttggatgtccactgatgaaattttaaaggagtttcagtt       c.*3180

          .         .         .         .         .         .       g.82300
 ttaaaagtgcgcatgattctacatatgagaattctttaggccaagaaactgtccttggct       c.*3240

          .         .         .         .         .         .       g.82360
 cagaggtgttgggaattaaagcagagagaagccattcgtgatgcttagaaccaaggatgg       c.*3300

          .         .         .         .         .         .       g.82420
 tcatgtacacaaagaccatcgagacggccattcttgtttacaaaacacttaccaagaaag       c.*3360

          .         .         .         .         .         .       g.82480
 cactttgtaggggaactttagtaagttcttctcatttcattatgtttcttccaaggaaac       c.*3420

          .         .         .         .         .         .       g.82540
 aggagagactgaattaataattctctctttcctcttaagcacttttaaaataataaagta       c.*3480

          .         .         .         .         .         .       g.82600
 catcttgaaatttggggaggcatctctgatttaaaaaaagaaaaaggctgcttgatgtat       c.*3540

          .         .         .         .         .         .       g.82660
 gttatgcagagacactctgcctctggtggctgcagagcaatacccaagcctcatttggaa       c.*3600

          .         .         .         .         .         .       g.82720
 ggctcaacatttggaattgcactttaattgattaatcctcaattcatgtggccttacggg       c.*3660

          .         .         .         .         .         .       g.82780
 atggtgggtctgggaccccaattcattcttatctgccaaagaattatctagaagcacatc       c.*3720

          .         .         .         .         .         .       g.82840
 aaataccagcaccccacctgctcaatgggggtggaaaacttttgtatccctaagcatatt       c.*3780

          .         .         .         .         .         .       g.82900
 attttatagtgtctgccatgccatgtggaaatactttatttttaacctcaggatttaaat       c.*3840

          .         .                                               g.82926
 aaagtaaacactatgacatttagaca                                         c.*3866

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The FYVE and coiled-coil domain containing 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center