(used for variant description)
(last modified May 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_020680.3 in the SCYL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047172.1, covering SCYL1 transcript NM_020680.3.
(upstream sequence)
. g.5029
ctctccgccccgccccg c.-61
. . . . . . g.5089
gctcgggcggccggaggacccggagctaaggcgcccgaacccgcggcggcggtggggacg c.-1
. . . . . . g.5149
ATGTGGTTCTTTGCCCGGGACCCGGTCCGGGACTTTCCGTTCGAGCTCATCCCGGAGCCC c.60
M W F F A R D P V R D F P F E L I P E P p.20
. . . . . | 02 . g.5518
CCAGAGGGCGGCCTGCCCGGGCCCTGGGCCCTGCACCGCGGCCGCAAGAAG | GCCACAGGC c.120
P E G G L P G P W A L H R G R K K | A T G p.40
. . . . . . g.5578
AGCCCCGTGTCCATCTTCGTCTATGATGTGAAGCCTGGCGCGGAAGAGCAGACCCAGGTG c.180
S P V S I F V Y D V K P G A E E Q T Q V p.60
. . . . . . g.5638
GCCAAAGCTGCCTTCAAGCGCTTCAAAACTCTACGGCACCCCAACATCCTGGCTTACATC c.240
A K A A F K R F K T L R H P N I L A Y I p.80
. | 03 . . . . . g.5904
GATGGACTGGAG | ACAGAAAAATGCCTCCACGTCGTGACAGAGGCTGTGACCCCGTTGGGA c.300
D G L E | T E K C L H V V T E A V T P L G p.100
. . . . . . g.5964
ATATACCTCAAGGCGAGAGTGGAGGCTGGTGGCCTGAAGGAGCTGGAGATCTCCTGGGGG c.360
I Y L K A R V E A G G L K E L E I S W G p.120
. | 04 . . . . . g.6104
CTACACCAGATCGTG | AAAGCCCTCAGCTTCCTGGTCAACGACTGCAGCCTCATCCACAAC c.420
L H Q I V | K A L S F L V N D C S L I H N p.140
. . . . . . g.6164
AATGTCTGCATGGCCGCCGTGTTCGTGGACCGAGCTGGCGAGTGGAAGCTTGGGGGCCTG c.480
N V C M A A V F V D R A G E W K L G G L p.160
. . . . . . g.6224
GACTACATGTATTCGGCCCAGGGCAACGGTGGGGGACCTCCCCGCAAGGGGATCCCCGAG c.540
D Y M Y S A Q G N G G G P P R K G I P E p.180
. . . . . . g.6284
CTTGAGCAGTATGACCCCCCGGAGTTGGCTGACAGCAGTGGCAGAGTGGTCAGAGAGAAG c.600
L E Q Y D P P E L A D S S G R V V R E K p.200
| 05 . . . . . . g.6776
TG | GTCAGCAGACATGTGGCGCTTGGGCTGCCTCATTTGGGAAGTCTTCAATGGGCCCCTA c.660
W | S A D M W R L G C L I W E V F N G P L p.220
. . . | 06 . . . g.6924
CCTCGGGCAGCAGCCCTACGCAACCCTGGGAAG | ATCCCCAAAACGCTGGTGCCCCATTAC c.720
P R A A A L R N P G K | I P K T L V P H Y p.240
. . . . . . g.6984
TGTGAGCTGGTGGGAGCAAACCCCAAGGTGCGTCCCAACCCAGCCCGCTTCCTGCAGAAC c.780
C E L V G A N P K V R P N P A R F L Q N p.260
. . . . . . g.7044
TGCCGGGCACCTGGTGGCTTCATGAGCAACCGCTTTGTAGAAACCAACCTCTTCCTGGAG c.840
C R A P G G F M S N R F V E T N L F L E p.280
| 07 . . . . . g.10615
GAGATTCAG | ATCAAAGAGCCAGCCGAGAAGCAAAAATTCTTCCAGGAGCTGAGCAAGAGC c.900
E I Q | I K E P A E K Q K F F Q E L S K S p.300
. . . . . . g.10675
CTGGACGCATTCCCTGAGGATTTCTGTCGGCACAAGGTGCTGCCCCAGCTGCTGACCGCC c.960
L D A F P E D F C R H K V L P Q L L T A p.320
. . . . | 08 . g.11523
TTCGAGTTCGGCAATGCTGGGGCCGTTGTCCTCACGCCCCTCTTCAAG | GTGGGCAAGTTC c.1020
F E F G N A G A V V L T P L F K | V G K F p.340
. . . . . . g.11583
CTGAGCGCTGAGGAGTATCAGCAGAAGATCATCCCTGTGGTGGTCAAGATGTTCTCATCC c.1080
L S A E E Y Q Q K I I P V V V K M F S S p.360
. . . | 09 . . . g.12651
ACTGACCGGGCCATGCGCATCCGCCTCCTGCAGCAG | ATGGAGCAGTTCATCCAGTACCTT c.1140
T D R A M R I R L L Q Q | M E Q F I Q Y L p.380
. . . . . . g.12711
GACGAGCCAACAGTCAACACCCAGATCTTCCCCCACGTCGTACATGGCTTCCTGGACACC c.1200
D E P T V N T Q I F P H V V H G F L D T p.400
. . . | 10 . . . g.15192
AACCCTGCCATCCGGGAGCAGACGGTCAAG | TCCATGCTGCTCCTGGCCCCAAAGCTGAAC c.1260
N P A I R E Q T V K | S M L L L A P K L N p.420
. . . . . . g.15252
GAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAA c.1320
E A N L N V E L M K H F A R L Q A K D E p.440
. . . . . . g.15312
CAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGT c.1380
Q G P I R C N T T V C L G K I G S Y L S p.460
| 11 . . . . . . g.15942
GCTAGC | ACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGACCCGTTT c.1440
A S | T R H R V L T S A F S R A T R D P F p.480
. . . . . . g.16002
GCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATG c.1500
A P S R V A G V L G F A A T H N L Y S M p.500
. . . . . . g.16062
AACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAA c.1560
N D C A Q K I L P V L C G L T V D P E K p.520
. | 12 . . . . . g.16239
TCCGTGCGAGACCAG | GCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTG c.1620
S V R D Q | A F K A I R S F L S K L E S V p.540
. . . | 13 . . . g.16550
TCGGAGGACCCGACCCAGCTGGAGGAAGTGG | AGAAGGATGTCCATGCAGCCTCCAGCCCT c.1680
S E D P T Q L E E V E | K D V H A A S S P p.560
. . . . . . g.16610
GGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTC c.1740
G M G G A A A S W A G W A V T G V S S L p.580
. . . . . . g.16670
ACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAA c.1800
T S K L I R S H P T T A P T E T N I P Q p.600
. | 14 . . . . . g.16965
AGACCCACGCCTGAAG | GAGTTCCTGCCCCAGCCCCCACCCCTGTTCCTGCCACCCCTACA c.1860
R P T P E G | V P A P A P T P V P A T P T p.620
. . . . . . g.17025
ACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACT c.1920
T S G H W E T Q E E D K D T A E D S S T p.640
. . . | 15 . . g.17765
GCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAG | CAGGAGGCCGAGTCTGTGCTG c.1980
A D R W D D E D W G S L E | Q E A E S V L p.660
. . . . . | 16 . g.17911
GCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAG | GTCAGCAAC c.2040
A Q Q D D W S T G G Q V S R A S Q | V S N p.680
. . . . . . g.17971
TCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGC c.2100
S D H K S S K S P E S D W S S W E A E G p.700
. . . . . . g.18031
TCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGG c.2160
S W E Q G W Q E P S S Q E P P P D G T R p.720
. . . . . . g.18091
CTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCT c.2220
L A S E Y N W G G P E S S D K G D P F A p.740
. . | 17. . . . g.18238
ACCCTGTCTGCACGTCCCAGCACCCAG | CCGAGGCCAGACTCTTGGGGTGAGGACAACTGG c.2280
T L S A R P S T Q | P R P D S W G E D N W p.760
. . | 18 . . . . g.18415
GAGGGCCTCGAGACTGACAGTC | GACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAG c.2340
E G L E T D S R | Q V K A E L A R K K R E p.780
. . . . . . g.18475
GAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATG c.2400
E R R R E M E A K R A E R K V A K G P M p.800
. . g.18502
AAGCTGGGAGCCCGGAAGCTGGACTGA c.2427
K L G A R K L D X p.808
. . . . . . g.18562
accgtggcggtggcccttcccggctgcggagagcccgccccacagatgtatttattgtac c.*60
. . . . . . g.18622
aaaccatgtgagcccggccggcccagccaggccatctcacgtgtacataatcagagccac c.*120
. . g.18647
aataaattctatttcacaccccttg c.*145
(downstream sequence)
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