(used for variant description)
(last modified June 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_017794.3 in the FOCAD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering FOCAD transcript NM_017794.3.
(upstream sequence)
g.5003
ttc c.-361
. . . . . . g.5063
gagcttcccggctgctttgtttacctaatcaagcctgggcaatggcgggcgcccctcccg c.-301
. . . . . . g.5123
cagcctcgctgccgccttgcaggttgatctcagactgctgtgctagcaatcagtgagact c.-241
. . . | 02 . . . g.5414
ccgtgggcgtaggactctccaagccag | tgagatgaactcggtatctcagatggaaatgca c.-181
. . . . . . g.5474
gaaatcaccgtcttctccatcgctcacgctgggagctgtagaccggagctgttcctattc c.-121
. . . . . | 03 . g.41227
ggccatctttgctcctccctgcaactaactccattcttaattg | accatcaaggaaatttc c.-61
. . . | 04. . . g.62044
catccacacagattagcagttgaaaatg | aagctgcacacatacatgtaagagaagcaaaa c.-1
. . . . . | 05. g.64487
ATGTCAGATGATATCAGGAAAAGGTTTGAATTTCCAAATTCTCTTATCCAATCACAG | GCT c.60
M S D D I R K R F E F P N S L I Q S Q | A p.20
. . . . . . g.64547
GTGGGTCATCTTATTGCTGCAGTCCTAAAGGAAAATGGTTTTTCAGAAAAGATTCACCAA c.120
V G H L I A A V L K E N G F S E K I H Q p.40
. | 06 . . . . . g.67118
TCTACAAATCAG | ACTCCTGCTTTGAACTTGCTGTGGGAGAAGTGTTGCAGTGACAATGTA c.180
S T N Q | T P A L N L L W E K C C S D N V p.60
. . . . . . g.67178
GTGGTTCGAACAGCCTGCTGTGAAGGTCTGGTGGCACTCGTTGCTCAGGATCATGCAGAG c.240
V V R T A C C E G L V A L V A Q D H A E p.80
. . . . | 07. . g.86939
TTCAGCTATGTTCTCAATGGGATACTCAACTTGATTCCATCAACCAG | AAATACACATGGC c.300
F S Y V L N G I L N L I P S T R | N T H G p.100
. . . . . . g.86999
TTGATAAAAGCCATTATGCACTTACTACAAATGCAAGCTCTTAAGGAAGGACAAGGTGGG c.360
L I K A I M H L L Q M Q A L K E G Q G G p.120
. . . | 08 . . . g.104808
GAAAAGAATATTCAGAGTATATATACCATTAG | AAATCATCCTCATCCTTTGATAACTGTG c.420
E K N I Q S I Y T I R | N H P H P L I T V p.140
. . . . . . g.104868
CTTGAACACAGACCTGATTGCTGGCCAGTGTTTTTGCAGCAGCTGACAGCGTTTTTCCAG c.480
L E H R P D C W P V F L Q Q L T A F F Q p.160
. | 09 . . . . . g.111605
CAGTGCCCTGAAAG | GTTAGAAGTTTCATGCATTCAAATAATGGCACCATTTCTGTGGTAT c.540
Q C P E R | L E V S C I Q I M A P F L W Y p.180
. . . . . . g.111665
CTGTATTGTGAACCATCTCAGTTACAAGAATATGCTAAACTCCGACTAGCCCTGCTGAAA c.600
L Y C E P S Q L Q E Y A K L R L A L L K p.200
. . . . . . g.111725
GTCTTACTTCAACCCCAGGTTCTTTGTGACAAAGATCAACCATCAATACTGGAACAGCAG c.660
V L L Q P Q V L C D K D Q P S I L E Q Q p.220
. . . | 10 . . g.116743
ATACTTCAACTGTGTTGTGACATAGTTCCATGTTTGCAG | GTAAAAGATTTGATACAGACA c.720
I L Q L C C D I V P C L Q | V K D L I Q T p.240
. . . . . . g.116803
ACAGAGGCGATGATGTTTATTGAGGAAGTATGTTTAAGCCTTTTGCGTCATCCTGTTTTC c.780
T E A M M F I E E V C L S L L R H P V F p.260
. . . . . . g.116863
TGGAAAATTCAGCTTACCCAGATGAGTCTTCAGCTGCTGTGTGTCAGTGAAGTCAGCTTA c.840
W K I Q L T Q M S L Q L L C V S E V S L p.280
. . . . . . g.116923
AAGATAACTGGTGAATGTTCATCTTCAATTCACCTTTTAGAGCACAGTGTTGAACTTCTG c.900
K I T G E C S S S I H L L E H S V E L L p.300
| 11 . . . . . . g.125425
AAGGAG | GATTTTCCTGTTGAACTGGTCATAATTGGAATAGCTTTACTACTTCTACAGACT c.960
K E | D F P V E L V I I G I A L L L L Q T p.320
. . . | 12 . . . g.128443
CCAGCAAGTCAGCAGAAGCCAATCTTAAATCTAG | CTTTGAAGCTCCTCTCTGTTACTGAG c.1020
P A S Q Q K P I L N L A | L K L L S V T E p.340
. . . . . . g.128503
GATCAGAAAATCCCAAAGTCCTCTCTGCTGCTAGTGATGCCAATTCTGCAGATACTATCT c.1080
D Q K I P K S S L L L V M P I L Q I L S p.360
. . . . . . g.128563
TCTACTGCCTTGGAAGACTGTATATCTGTGGATGAAGAAGGTCCCTCTAGGCAGCAGTTG c.1140
S T A L E D C I S V D E E G P S R Q Q L p.380
. . . . . | 13. g.136044
GCTCTAAACCTTTTGGAAATGATACAGCAGGAATGTTACAGAGATGACCACCAAAAG | CTC c.1200
A L N L L E M I Q Q E C Y R D D H Q K | L p.400
. . . . . . g.136104
TCCTACAAGCTTGTGTGCCCTGTAACCAGTATGTATGGTACAATATTTACAGCCTGGAGG c.1260
S Y K L V C P V T S M Y G T I F T A W R p.420
. . . . . . g.136164
ATTCTTGAAGTAATGACAGACTCGTCTGCTGCAAGTGACTGGTTGGCTTCAGTAGAGTCA c.1320
I L E V M T D S S A A S D W L A S V E S p.440
. . . . . . g.136224
TTGCTTCCTATTACTGCTGTGATCCCTGCGCCTGCCTTTCTTCTGCTGGCTCACCTCCTT c.1380
L L P I T A V I P A P A F L L L A H L L p.460
. . . . . . g.136284
GTTGAAGACAAAGGACAAAATCTTCACCAAATACTCAAGGTCACTACAGAATTAGCCCAA c.1440
V E D K G Q N L H Q I L K V T T E L A Q p.480
. | 14 . . . . . g.166531
GCAGATTCCTCCCAG | GTGCCAAATCTGATTCCAGTTTTGATGTTCAAATTGGGAAGACCA c.1500
A D S S Q | V P N L I P V L M F K L G R P p.500
. . . . . . g.166591
CTGGAACCTATATTATATAATGATATATTGTATACTTTACCTAAGCTTGGTGTTCACAAG c.1560
L E P I L Y N D I L Y T L P K L G V H K p.520
| 15 . . . . . . g.167074
| GTGTGTATAGGACAAATTCTACGAATAATACAACTACTTGGAACCACACCACGACTAAGA c.1620
| V C I G Q I L R I I Q L L G T T P R L R p.540
. . . . | 16 . . g.167649
GCTGTCACTTTGCGCTTGCTGACATCTTTGTGGGAAAAGCAG | GACCGAGTCTATCCTGAA c.1680
A V T L R L L T S L W E K Q | D R V Y P E p.560
. . . . . . g.167709
CTGCAGCGTTTCATGGCTGTGTCTGATGTACCTTCTCTTTCGGTGGGCAAGGAAGTCCAA c.1740
L Q R F M A V S D V P S L S V G K E V Q p.580
. . . . . | 17 . g.169686
TGGGAGAAACTGATTGCAAAAGCAGCATCAATCAGAGATATATGTAAGCAGAG | GCCATAT c.1800
W E K L I A K A A S I R D I C K Q R | P Y p.600
. . . . . . g.169746
CAACATGGTGCAGATATGTTGGCAGCTATTTCTCAAGTGTTGAATGAATGCACCAAGCCT c.1860
Q H G A D M L A A I S Q V L N E C T K P p.620
. . . . . . g.169806
GATCAAGCTACTCCAGCAGCCTTGGTATTACAGGGTCTTCATGCACTCTGTCAAGCTGAG c.1920
D Q A T P A A L V L Q G L H A L C Q A E p.640
| 18 . . . . . . g.209328
| GTTGTTTGCATTCGCTCCACTTGGAATGCTCTCTCTCCAAAGCTGAGTTGTGACACAAGA c.1980
| V V C I R S T W N A L S P K L S C D T R p.660
. . . . . . g.209388
CCTCTCATTCTGAAGACACTGAGTGAACTATTTTCTCTAGTTCCTTCCTTAACGGTCAAT c.2040
P L I L K T L S E L F S L V P S L T V N p.680
. | 19 . . . . . g.212661
ACAACTGAATATGAG | AATTTTAAAGTTCAAGTCCTCAGCTTCCTCTGGACTCATACTCAA c.2100
T T E Y E | N F K V Q V L S F L W T H T Q p.700
| 20 . . . . . . g.213673
AACAAG | GACCCAATTGTAGCAAATGCTGCATATAGATCCCTGGCCAACTTTACTGCAGGA c.2160
N K | D P I V A N A A Y R S L A N F T A G p.720
. . . | 21 . . . g.221401
GAACACACCATTCTTCATCTGCCTGAAAAG | ATAAGACCAGAAATTCCCATTCCTGAAGAG c.2220
E H T I L H L P E K | I R P E I P I P E E p.740
. . . . . . g.221461
TTAGATGACGATGAAGATGTTGAGGATGTGGATCTTTCAGTTCCTGGCTCTTGCTATCTC c.2280
L D D D E D V E D V D L S V P G S C Y L p.760
. . . | 22. . . g.228584
AAACTGTTGTCACTCACTCCCCCTTTGGTTTTACCAG | CTTTGGAGGAATTTTTTACATCA c.2340
K L L S L T P P L V L P A | L E E F F T S p.780
. . . . . . g.228644
CTTGTGAAGCAAGAAATGGTGAATATGCCTCGTGGGATATATCACTCTGCATTAAAAGGA c.2400
L V K Q E M V N M P R G I Y H S A L K G p.800
. . . . . . g.228704
GGTGCCCGCTCAGACCAAGGAAAGACTGTAGCAGGAATCCCCAATTTTATATTGAAAATG c.2460
G A R S D Q G K T V A G I P N F I L K M p.820
. . . . | 23 . . g.231816
TATGAAACAAACAAGCAACCAGGACTGAAACCTGGCCTTGCAG | GTGGTATGTTATTTTGC c.2520
Y E T N K Q P G L K P G L A G | G M L F C p.840
. . . . . . g.231876
TATGATGTTTCCATGTATCAGAGTAAAGATGGAAAACCATTGAACAGACTGATGGCCAGC c.2580
Y D V S M Y Q S K D G K P L N R L M A S p.860
. . . . | 24 . . g.253855
AGAGGGCGAAGTTTCAAGCAGACTTCACTTGCTCTTGTACATGAG | GTTCATATCCAGCTT c.2640
R G R S F K Q T S L A L V H E | V H I Q L p.880
. . . . . . g.253915
TCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCT c.2700
S E W H R A I F L P Q A W L A Y M N R A p.900
. | 25 . . . . g.259598
TATCATGCCATTTTACAG | GGAAGACTAGGAGAGCTGGAGTTGCAGTTAAAACATGGAAAA c.2760
Y H A I L Q | G R L G E L E L Q L K H G K p.920
. . . . | 26. . g.263596
GAAGAACCTGAGGAGGTGCAGTACAAAAAAAGCACAGCCTGGCTCTG | GGTTAGAGACATG c.2820
E E P E E V Q Y K K S T A W L W | V R D M p.940
. . . | 27 . . . g.270378
CTGACTGATGAGATCACCAAGGCAGCTGCAAA | GGAGAGTCCGGTAGTGAAAGGCAATGCG c.2880
L T D E I T K A A A K | E S P V V K G N A p.960
. . . . . . g.270438
CTGTTAGCTCTAAGCAGCCTTGCTGTCGTCGTATCTAGACATGAAGCCAGCCTCTCCTCA c.2940
L L A L S S L A V V V S R H E A S L S S p.980
. . | 28 . . . . g.273030
GACTCTGACGGGCTCCTGGAG | GTTCAACCTAATTTCCTTTCAATGAAAGAGTGGGTTTCC c.3000
D S D G L L E | V Q P N F L S M K E W V S p.1000
. . . . . . g.273090
ATGGTACTTGATACACTCTTGGTCATTGTGGATAGCCATTACCAACCCAGAGGGCAACTT c.3060
M V L D T L L V I V D S H Y Q P R G Q L p.1020
. | 29 . . . . g.276090
CTCTCCTGGTTTTATTAT | AAGTCCTATTCTGGTGAAAACACAGCTAGTGCCATTGCCCGT c.3120
L S W F Y Y | K S Y S G E N T A S A I A R p.1040
. . . . . . g.276150
TCTGCTGCCGCCACGGCTTTGTCTCTCCTTGTGCCAGTTTTCATTATCTCTTGCAAAGAG c.3180
S A A A T A L S L L V P V F I I S C K E p.1060
. . . . . . g.276210
AAGGTTGAGGAAATCCTGAACATGCTGACTGCCAGGTTACCTGGGAAACCAAGTGCTGAT c.3240
K V E E I L N M L T A R L P G K P S A D p.1080
. . . . . . g.276270
GAGTCTCAAGCCGTGCAAATCCACATGGGCCTTGCTTTAGGGATGTTTCTCTCTCGCTTG c.3300
E S Q A V Q I H M G L A L G M F L S R L p.1100
. | 30. . . . . g.279747
TGTGAAGAGAAACTCAG | TGATATATCTGGCCAAGAGATGAACCTTCTTCTGATGAAGTCG c.3360
C E E K L S | D I S G Q E M N L L L M K S p.1120
. . . . | 31. . g.291330
TTGGATGCCCTGGAAAATTGCTGCTTTGACACTAGTCTTGAATACAA | CACGGGCTGTATA c.3420
L D A L E N C C F D T S L E Y N | T G C I p.1140
. . . . . . g.291390
TTGGGAGTTGGACTTGTTCTGTCCCTCATGAGCCACAGCAGCCAAATGCAGTCCCGCGTT c.3480
L G V G L V L S L M S H S S Q M Q S R V p.1160
. . . . . . g.291450
CACGTAGCAGCATTGCTCCGGAAGCTGTCTGCGCACGTAGATGACAGCGGGAGCCAGAGC c.3540
H V A A L L R K L S A H V D D S G S Q S p.1180
. | 32 . . . . . g.293436
AGAACGTTTCAGGAG | GTCCTTGCCTACACACTTAGCTGTGTATGTACATCAGCGTTCAGT c.3600
R T F Q E | V L A Y T L S C V C T S A F S p.1200
. . . . . . g.293496
GCTGGAATTATTGAGGCTACAGAGGCTGAGGATGTTATGAACAAGCTTCGACTGTTAGTG c.3660
A G I I E A T E A E D V M N K L R L L V p.1220
. | 33 . . . . . g.295006
GAGAATAGCCAGCAG | ACTTCAGGTTTTGCCCTGGCTTTAGGAAACATAGTTCATGGATTG c.3720
E N S Q Q | T S G F A L A L G N I V H G L p.1240
. . . . . . g.295066
TCTGTGTGTGGACATGGAAAAGCTGAAGACTTGGGCAGCAAACTACTCCCTGCCTGGATC c.3780
S V C G H G K A E D L G S K L L P A W I p.1260
. | 34 . . . . g.295583
AGAATTGTTCTAACAGAG | GGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATG c.3840
R I V L T E | G T P T M L C L A A L H G M p.1280
. . . | 35 . . . g.296318
GTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAG | CTGAAATCAGAAGCCATCCAGACC c.3900
V A L V G S E G D V M Q | L K S E A I Q T p.1300
. . . . | 36 . g.297698
TCTCATTTTCAAGGCAGACTTAATGAAGTCATTAGAACCTTAACTCAG | GTCATTAGTGTC c.3960
S H F Q G R L N E V I R T L T Q | V I S V p.1320
. . . . . . g.297758
TCTGGGGTGATTGGTCTCCAGTCAAATGCAGTCTGGCTTCTTGGACATCTTCATCTATCT c.4020
S G V I G L Q S N A V W L L G H L H L S p.1340
. . . | 37 . . . g.299704
ACTCTATCCTCAAGTCAAAGTAGAGCCTCTG | TTCCTACTGACTATAGCTACTTGCCTGAA c.4080
T L S S S Q S R A S V | P T D Y S Y L P E p.1360
. . . . . | 38 . g.323118
AGCAGTTTTATTGGAGCAGCTATTGGCTTCTTCATTACAGGAGGAAAAAAAG | GTCCTGAA c.4140
S S F I G A A I G F F I T G G K K G | P E p.1380
. . . . . . g.323178
TCTGTGCCTCCTTCCCTTCTTAAAGTAGTGATGAAACCCATAGCAACTGTTGGAGAAAGC c.4200
S V P P S L L K V V M K P I A T V G E S p.1400
. . . . . . g.323238
TACCAATATCCTCCTGTGAACTGGGCTGCACTTCTCTCTCCACTTATGAGGCTAAATTTT c.4260
Y Q Y P P V N W A A L L S P L M R L N F p.1420
| 39 . . . . . . g.325088
G | GTGAAGAGATCCAGCAACTGTGCCTTGAAATTATGGTGACCCAGGCACAGTCATCCCAG c.4320
G | E E I Q Q L C L E I M V T Q A Q S S Q p.1440
. . . . . | 40. g.328119
AATGCAGCTGCACTATTGGGCTTGTGGGTGACACCACCACTGATCCACAGTCTGAGT | CTG c.4380
N A A A L L G L W V T P P L I H S L S | L p.1460
. . . . . . g.328179
AATACCAAGAGATATCTCCTGATATCTGCACCTCTGTGGATAAAACACATCTCTGATGAA c.4440
N T K R Y L L I S A P L W I K H I S D E p.1480
. . . . . . g.328239
CAGATCCTGGGTTTTGTTGAAAATTTAATGGTGGCAGTTTTTAAAGCAGCTTCCCCACTT c.4500
Q I L G F V E N L M V A V F K A A S P L p.1500
. . . . . . g.328299
GGAAGTCCTGAGCTATGCCCAAGTGCTTTACACGGTCTGAGCCAGGCCATGAAACTGCCC c.4560
G S P E L C P S A L H G L S Q A M K L P p.1520
. . . . . . g.328359
AGCCCTGCCCACCACCTCTGGAGTCTGCTCTCTGAAGCTACTGGGAAAATTTTTGACCTC c.4620
S P A H H L W S L L S E A T G K I F D L p.1540
. | 41 . . . . g.329089
CTGCCAAATAAGATTCGG | AGAAAGGATCTAGAGCTGTATATCAGCATAGCAAAATGCCTC c.4680
L P N K I R | R K D L E L Y I S I A K C L p.1560
. . . . | 42 . g.332990
TTAGAAATGACAGATGATGATGCCAATCGGATCGCCCAGGTTACTAAG | AGCAACATAGAA c.4740
L E M T D D D A N R I A Q V T K | S N I E p.1580
. . . . . . g.333050
AAAGCTGCCTTTGTCAAACTGTACTTAGTCTCTCAAGGACGATTCCCCTTGGTGAACCTG c.4800
K A A F V K L Y L V S Q G R F P L V N L p.1600
. . . . . . g.333110
ACCGATATGCTGAGCGTTGCTGTGCAGCACCGTGAGAAAGAGGTGTTGGCCTGGATGATT c.4860
T D M L S V A V Q H R E K E V L A W M I p.1620
. . . . | 43 . . g.335036
CTGCACAGCTTATACCAGGCACGGATTGTGAGCCATGCCAATACGG | GCGTTTTGAAGAGA c.4920
L H S L Y Q A R I V S H A N T G | V L K R p.1640
. . . . . . g.335096
ATGGAGTGGCTCTTGGAACTGATGGGTTATATTAGAAATGTTGCTTACCAGTCAACATCC c.4980
M E W L L E L M G Y I R N V A Y Q S T S p.1660
. . | 44 . . . . g.336849
TTTCACAATACGGCTCTTGACAAG | GCTTTGGACTTCTTCTTGCTGATATTTGCAACCGCA c.5040
F H N T A L D K | A L D F F L L I F A T A p.1680
. . . . . . g.336909
GTGGTTGCATGGGCTGACCACACTGCCCCTCTCCTCCTCGGCCTCAGTGCCAGTTGGTTG c.5100
V V A W A D H T A P L L L G L S A S W L p.1700
. . . . . . g.336969
CCATGGCATCAGGAGAATGGCCCGGCTGGGCCAGTACCAAGCTTCCTTGGCAGGAGTCCA c.5160
P W H Q E N G P A G P V P S F L G R S P p.1720
. . . . . . g.337029
ATGCACAGGGTCACTCTGCAGGAGGTTCTCACTCTCCTTCCCAATAGCATGGCTCTGCTG c.5220
M H R V T L Q E V L T L L P N S M A L L p.1740
. . . | 45 . . . g.339967
CTGCAGAAAGAGCCATGGAAGGAACAGACCCAGAAG | TTCATTGACTGGCTATTCAGCATC c.5280
L Q K E P W K E Q T Q K | F I D W L F S I p.1760
. . . . . | 46 . g.342254
ATGGAAAGCCCTAAAGAAGCCCTCTCAGCACAGTCCAGGGATCTTTTGAAAG | CCACCCTG c.5340
M E S P K E A L S A Q S R D L L K A | T L p.1780
. . . . . . g.342314
CTGTCCTTGAGAGTTCTCCCAGAGTTTAAGAAGAAAGCTGTATGGACCAGAGCATATGGT c.5400
L S L R V L P E F K K K A V W T R A Y G p.1800
g.342320
TGGTGA c.5406
W X p.1801
. . . . . . g.342380
acagttttgcagtaaccagcagcattctcagctggatgaggaaaaccatataagtggaag c.*60
. . . . . . g.342440
aagtttttcagaattcatgcctggtattgctgagacatgatgcagagagttaagggtcat c.*120
. . . . . . g.342500
gaaaagatggccacatcactgacagcttgacacatgcctcctaagagaggagtgcattgc c.*180
. . . . . . g.342560
tttagtacccgggccagttgagactgaaacaggaacttggattttctttatttggcttga c.*240
. . . . . . g.342620
gttcaatgtggagattttctttgtgaaagcttgaagatattatcttctccctgctaaatt c.*300
. . g.342646
ccagtaaaataatgttgtcaattttg c.*326
(downstream sequence)
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