(used for variant description)
(last modified May 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006514.2 in the SCN10A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031891.1, covering SCN10A transcript NM_006514.2.
(upstream sequence)
. . . . . . g.60
ATGGAATTCCCCATTGGATCCCTCGAAACTAACAACTTCCGTCGCTTTACTCCGGAGTCA c.60
M E F P I G S L E T N N F R R F T P E S p.20
. . . . . . g.120
CTGGTGGAGATAGAGAAGCAAATTGCTGCCAAGCAGGGAACAAAGAAAGCCAGAGAGAAG c.120
L V E I E K Q I A A K Q G T K K A R E K p.40
. . . . . . g.180
CATAGGGAGCAGAAGGACCAAGAAGAGAAGCCTCGGCCCCAGCTGGACTTGAAAGCCTGC c.180
H R E Q K D Q E E K P R P Q L D L K A C p.60
. . . . . . g.240
AACCAGCTGCCCAAGTTCTATGGTGAGCTCCCAGCAGAACTGATCGGGGAGCCCCTGGAG c.240
N Q L P K F Y G E L P A E L I G E P L E p.80
. . . | 02 . . . g.1872
GATCTAGATCCGTTCTACAGCACACACCGG | ACATTTATGGTGCTGAACAAAGGGAGGACC c.300
D L D P F Y S T H R | T F M V L N K G R T p.100
. . . . . . g.1932
ATTTCCCGGTTTAGTGCCACTCGGGCCCTGTGGCTATTCAGTCCTTTCAACCTGATCAGA c.360
I S R F S A T R A L W L F S P F N L I R p.120
. . | 03 . . . g.5005
AGAACGGCCATCAAAGTGTCTGTCCACTC | GTGGTTCAGTTTATTTATTACGGTCACTATT c.420
R T A I K V S V H S | W F S L F I T V T I p.140
. . . . . | 04 . g.22613
TTGGTTAATTGTGTGTGCATGACCCGAACTGACCTTCCAGAGAAAATTGA | ATATGTCTTC c.480
L V N C V C M T R T D L P E K I E | Y V F p.160
. . . . . . g.22673
ACTGTCATTTACACCTTTGAAGCCTTGATAAAGATACTGGCAAGAGGATTTTGTCTAAAT c.540
T V I Y T F E A L I K I L A R G F C L N p.180
. . . . . | 05 g.30415
GAGTTCACGTACCTGAGAGATCCTTGGAACTGGCTGGATTTTAGCGTCATTACCCTGGC | A c.600
E F T Y L R D P W N W L D F S V I T L A | p.200
. . . . . . g.30475
TATGTTGGCACAGCAATAGATCTCCGTGGGATCTCAGGCCTGCGGACATTCAGAGTTCTT c.660
Y V G T A I D L R G I S G L R T F R V L p.220
. . . | 06 . . . g.32656
AGAGCATTAAAAACAGTTTCTGTGATCCCAG | GCCTGAAGGTCATTGTGGGGGCCCTGATT c.720
R A L K T V S V I P G | L K V I V G A L I p.240
. . . . . . g.32716
CACTCAGTGAAGAAACTGGCTGATGTGACCATCCTCACCATCTTCTGCCTAAGTGTTTTT c.780
H S V K K L A D V T I L T I F C L S V F p.260
. . . . . . g.32776
GCCTTGGTGGGGCTGCAACTCTTCAAGGGCAACCTCAAAAATAAATGTGTCAAGAATGAC c.840
A L V G L Q L F K G N L K N K C V K N D p.280
. . . . | 07 . . g.33280
ATGGCTGTCAATGAGACAACCAACTACTCATCTCACAGAAAAC | CAGATATCTACATAAAT c.900
M A V N E T T N Y S S H R K P | D I Y I N p.300
. . . . . | 08 . g.36861
AAGCGAGGCACTTCTGACCCCTTACTGTGTGGCAATGGATCTGACTCAGG | CCACTGCCCT c.960
K R G T S D P L L C G N G S D S G | H C P p.320
. . . . . . g.36921
GATGGTTATATCTGCCTTAAAACTTCTGACAACCCGGATTTTAACTACACCAGCTTTGAT c.1020
D G Y I C L K T S D N P D F N Y T S F D p.340
. . . . . . g.36981
TCCTTTGCTTGGGCTTTCCTCTCACTGTTCCGCCTCATGACACAGGATTCCTGGGAACGC c.1080
S F A W A F L S L F R L M T Q D S W E R p.360
. | 09 . . . . . g.37187
CTCTACCAGCAG | ACCCTGAGGACTTCTGGGAAAATCTATATGATCTTTTTTGTGCTCGTA c.1140
L Y Q Q | T L R T S G K I Y M I F F V L V p.380
. . . . . . g.37247
ATCTTCCTGGGATCTTTCTACCTGGTCAACTTGATCTTGGCTGTAGTCACCATGGCGTAT c.1200
I F L G S F Y L V N L I L A V V T M A Y p.400
. . . . . . g.37307
GAGGAGCAGAACCAGGCAACCACTGATGAAATTGAAGCAAAGGAGAAGAAGTTCCAGGAG c.1260
E E Q N Q A T T D E I E A K E K K F Q E p.420
. . . | 10 . . . g.38082
GCCCTCGAGATGCTCCGGAAGGAGCAGGAG | GTGCTAGCAGCACTAGGGATTGACACAACC c.1320
A L E M L R K E Q E | V L A A L G I D T T p.440
. . . . . . g.38142
TCTCTCCACTCCCACAATGGATCACCTTTAACCTCCAAAAATGCCAGTGAGAGAAGGCAT c.1380
S L H S H N G S P L T S K N A S E R R H p.460
. . . . . . g.38202
AGAATAAAGCCAAGAGTGTCAGAGGGCTCCACAGAAGACAACAAATCACCCCGCTCTGAT c.1440
R I K P R V S E G S T E D N K S P R S D p.480
. . | 11 . . . . g.41537
CCTTACAACCAGCGCAGGATG | TCTTTTCTAGGCCTCGCCTCTGGAAAACGCCGGGCTAGT c.1500
P Y N Q R R M | S F L G L A S G K R R A S p.500
. . . . . . g.41597
CATGGCAGTGTGTTCCATTTCCGGTCCCCTGGCCGAGATATCTCACTCCCTGAGGGAGTC c.1560
H G S V F H F R S P G R D I S L P E G V p.520
. . . . . . g.41657
ACAGATGATGGAGTCTTTCCTGGAGACCACGAAAGCCATCGGGGCTCTCTGCTGCTGGGT c.1620
T D D G V F P G D H E S H R G S L L L G p.540
. . . . . . g.41717
GGGGGTGCTGGCCAGCAAGGCCCCCTCCCTAGAAGCCCTCTTCCTCAACCCAGCAACCCT c.1680
G G A G Q Q G P L P R S P L P Q P S N P p.560
. . . . . . g.41777
GACTCCAGGCATGGAGAAGATGAACACCAACCGCCGCCCACTAGTGAGCTTGCCCCTGGA c.1740
D S R H G E D E H Q P P P T S E L A P G p.580
. | 12 . . . . . g.43871
GCTGTCGATGTCTCG | GCATTCGATGCAGGACAAAAGAAGACTTTCTTGTCAGCAGAATAC c.1800
A V D V S | A F D A G Q K K T F L S A E Y p.600
. . . . . . g.43931
TTAGATGAACCTTTCCGGGCCCAAAGGGCAATGAGTGTTGTCAGTATCATAACCTCCGTC c.1860
L D E P F R A Q R A M S V V S I I T S V p.620
| 13. . . . . . g.51534
CTTGAGG | AACTCGAGGAGTCTGAACAGAAGTGCCCACCCTGCTTGACCAGCTTGTCTCAG c.1920
L E E | L E E S E Q K C P P C L T S L S Q p.640
. . . . . . g.51594
AAGTATCTGATCTGGGATTGCTGCCCCATGTGGGTGAAGCTCAAGACAATTCTCTTTGGG c.1980
K Y L I W D C C P M W V K L K T I L F G p.660
. . . . . . g.51654
CTTGTGACGGATCCCTTTGCAGAGCTCACCATCACCTTGTGCATCGTGGTGAACACCATC c.2040
L V T D P F A E L T I T L C I V V N T I p.680
. . . . . . g.51714
TTCATGGCCATGGAGCACCATGGCATGAGCCCTACCTTCGAAGCCATGCTCCAGATAGGC c.2100
F M A M E H H G M S P T F E A M L Q I G p.700
| 14 . . . . . . g.54376
AACATC | GTCTTTACCATATTTTTTACTGCTGAAATGGTCTTCAAAATCATTGCCTTCGAC c.2160
N I | V F T I F F T A E M V F K I I A F D p.720
. . . . . . g.54436
CCATACTATTATTTCCAGAAGAAGTGGAATATCTTTGACTGCATCATCGTCACTGTGAGT c.2220
P Y Y Y F Q K K W N I F D C I I V T V S p.740
. . . . . . g.54496
CTGCTAGAGCTGGGCGTGGCCAAGAAGGGAAGCCTGTCTGTGCTGCGGAGCTTCCGCTTG c.2280
L L E L G V A K K G S L S V L R S F R L p.760
| 15 . . . . . . g.65169
| CTGCGCGTATTCAAGCTGGCCAAATCCTGGCCCACCTTAAACACACTCATCAAGATCATC c.2340
| L R V F K L A K S W P T L N T L I K I I p.780
. . . . . . g.65229
GGAAACTCAGTGGGGGCACTGGGGAACCTCACCATCATCCTGGCCATCATTGTCTTTGTC c.2400
G N S V G A L G N L T I I L A I I V F V p.800
. . . . . . g.65289
TTTGCTCTGGTTGGCAAGCAGCTCCTAGGGGAAAACTACCGTAACAACCGAAAAAATATC c.2460
F A L V G K Q L L G E N Y R N N R K N I p.820
. . . . . . g.65349
TCCGCGCCCCATGAAGACTGGCCCCGCTGGCACATGCACGACTTCTTCCACTCTTTCCTC c.2520
S A P H E D W P R W H M H D F F H S F L p.840
. . . . . . g.65409
ATTGTCTTCCGTATCCTCTGTGGAGAGTGGATTGAGAACATGTGGGCCTGCATGGAAGTT c.2580
I V F R I L C G E W I E N M W A C M E V p.860
. . . . . . g.65469
GGCCAAAAATCCATATGCCTCATCCTTTTCTTGACGGTGATGGTGCTAGGGAACCTGGTG c.2640
G Q K S I C L I L F L T V M V L G N L V p.880
| 16 . . . . . . g.67018
| GTGCTTAACCTGTTCATCGCCCTGCTATTGAACTCTTTCAGTGCTGACAACCTCACAGCC c.2700
| V L N L F I A L L L N S F S A D N L T A p.900
. . . . . . g.67078
CCGGAGGACGATGGGGAGGTGAACAACCTGCAGGTGGCCCTGGCACGGATCCAGGTCTTT c.2760
P E D D G E V N N L Q V A L A R I Q V F p.920
. . . . . . g.67138
GGCCATCGTACCAAACAGGCTCTTTGCAGCTTCTTCAGCAGGTCCTGCCCATTCCCCCAG c.2820
G H R T K Q A L C S F F S R S C P F P Q p.940
. . . . . . g.67198
CCCAAGGCAGAGCCTGAGCTGGTGGTGAAACTCCCACTCTCCAGCTCCAAGGCTGAGAAC c.2880
P K A E P E L V V K L P L S S S K A E N p.960
. . . . . . g.67258
CACATTGCTGCCAACACTGCCAGGGGGAGCTCTGGAGGGCTCCAAGCTCCCAGAGGCCCC c.2940
H I A A N T A R G S S G G L Q A P R G P p.980
. . . . . . g.67318
AGGGATGAGCACAGTGACTTCATCGCTAATCCGACTGTGTGGGTCTCTGTGCCCATTGCT c.3000
R D E H S D F I A N P T V W V S V P I A p.1000
. . . . . . g.67378
GAGGGTGAATCTGATCTTGATGACTTGGAGGATGATGGTGGGGAAGATGCTCAGAGCTTC c.3060
E G E S D L D D L E D D G G E D A Q S F p.1020
. . | 17. . . . g.68729
CAGCAGGAAGTGATCCCCAAAGGACAG | CAGGAGCAGCTGCAGCAAGTCGAGAGGTGTGGG c.3120
Q Q E V I P K G Q | Q E Q L Q Q V E R C G p.1040
. . . . . . g.68789
GACCACCTGACACCCAGGAGCCCAGGCACTGGAACATCTTCTGAGGACCTGGCTCCATCC c.3180
D H L T P R S P G T G T S S E D L A P S p.1060
. . . . | 18 . g.70469
CTGGGTGAGACGTGGAAAGATGAGTCTGTTCCTCAGGTCCCTGCTGAG | GGAGTGGACGAC c.3240
L G E T W K D E S V P Q V P A E | G V D D p.1080
. . . . . . g.70529
ACAAGCTCCTCTGAGGGCAGCACGGTGGACTGCCTAGATCCTGAGGAAATCCTGAGGAAG c.3300
T S S S E G S T V D C L D P E E I L R K p.1100
. . . . . | 19 . g.71606
ATCCCTGAGCTGGCAGATGACCTGGAAGAACCAGATGACTGCTTCACAGAAG | GATGCATT c.3360
I P E L A D D L E E P D D C F T E G | C I p.1120
. . . . . . g.71666
CGCCACTGTCCCTGCTGCAAACTGGATACCACCAAGAGTCCATGGGATGTGGGCTGGCAG c.3420
R H C P C C K L D T T K S P W D V G W Q p.1140
. . . . . . g.71726
GTGCGCAAGACTTGCTACCGTATCGTGGAGCACAGCTGGTTTGAGAGCTTCATCATCTTC c.3480
V R K T C Y R I V E H S W F E S F I I F p.1160
. . | 20. . . . g.75217
ATGATCCTGCTCAGCAGTGGATCTCTG | GCCTTTGAAGACTATTACCTGGACCAGAAGCCC c.3540
M I L L S S G S L | A F E D Y Y L D Q K P p.1180
. . . . . . g.75277
ACGGTGAAAGCTTTGCTGGAGTACACTGACAGGGTCTTCACCTTTATCTTTGTGTTCGAG c.3600
T V K A L L E Y T D R V F T F I F V F E p.1200
. . . . . . g.75337
ATGCTGCTTAAGTGGGTGGCCTATGGCTTCAAAAAGTACTTCACCAATGCCTGGTGCTGG c.3660
M L L K W V A Y G F K K Y F T N A W C W p.1220
. . | 21 . . . . g.79969
CTGGACTTCCTCATTGTGAAT | ATCTCACTGATAAGTCTCACAGCGAAGATTCTGGAATAT c.3720
L D F L I V N | I S L I S L T A K I L E Y p.1240
. . . . . . g.80029
TCTGAAGTGGCTCCCATCAAAGCCCTTCGAACCCTTCGCGCTCTGCGGCCACTGCGGGCT c.3780
S E V A P I K A L R T L R A L R P L R A p.1260
. . | 22 . . . . g.81601
CTTTCTCGATTTGAAGGCATGCGG | GTGGTGGTGGATGCCCTGGTGGGCGCCATCCCATCC c.3840
L S R F E G M R | V V V D A L V G A I P S p.1280
. . . . . . g.81661
ATCATGAATGTCCTCCTCGTCTGCCTCATCTTCTGGCTCATCTTCAGCATCATGGGTGTG c.3900
I M N V L L V C L I F W L I F S I M G V p.1300
. . . . . . g.81721
AACCTCTTCGCAGGGAAGTTTTGGAGGTGCATCAACTATACCGATGGAGAGTTTTCCCTT c.3960
N L F A G K F W R C I N Y T D G E F S L p.1320
. . . . . . g.81781
GTACCTTTGTCGATTGTGAATAACAAGTCTGACTGCAAGATTCAAAACTCCACTGGCAGC c.4020
V P L S I V N N K S D C K I Q N S T G S p.1340
. . . . . . g.81841
TTCTTCTGGGTCAATGTGAAAGTCAACTTTGATAATGTTGCAATGGGTTACCTTGCACTT c.4080
F F W V N V K V N F D N V A M G Y L A L p.1360
| 23 . . . . . g.83164
CTGCAGGTG | GCAACCTTTAAAGGCTGGATGGACATTATGTATGCAGCTGTTGATTCCCGG c.4140
L Q V | A T F K G W M D I M Y A A V D S R p.1380
| 24 . . . . . . g.84452
GAG | GTCAACATGCAACCCAAGTGGGAGGACAACGTGTACATGTATTTGTACTTTGTCATC c.4200
E | V N M Q P K W E D N V Y M Y L Y F V I p.1400
. . . . . . g.84512
TTCATCATTTTTGGAGGCTTCTTCACACTGAATCTCTTTGTTGGGGTCATAATTGACAAC c.4260
F I I F G G F F T L N L F V G V I I D N p.1420
. . | 25 . . . . g.86666
TTCAATCAACAGAAAAAAAAG | TTAGGGGGCCAGGACATCTTCATGACAGAGGAGCAGAAG c.4320
F N Q Q K K K | L G G Q D I F M T E E Q K p.1440
. . . . . . g.86726
AAATACTACAATGCCATGAAGAAGTTGGGCTCCAAGAAGCCCCAGAAGCCCATCCCACGG c.4380
K Y Y N A M K K L G S K K P Q K P I P R p.1460
| 26 . . . . . . g.91955
CCCCTG | AACAAGTTCCAGGGTTTTGTCTTTGACATCGTGACCAGACAAGCTTTTGACATC c.4440
P L | N K F Q G F V F D I V T R Q A F D I p.1480
. . . . . . g.92015
ACCATCATGGTCCTCATCTGCCTCAACATGATCACCATGATGGTGGAGACTGATGACCAA c.4500
T I M V L I C L N M I T M M V E T D D Q p.1500
. . . . . . g.92075
AGTGAAGAAAAGACGAAAATTCTGGGCAAAATCAACCAGTTCTTTGTGGCCGTCTTCACA c.4560
S E E K T K I L G K I N Q F F V A V F T p.1520
. . . . . . g.92135
GGCGAATGTGTCATGAAGATGTTCGCTTTGAGGCAGTACTACTTCACAAATGGCTGGAAT c.4620
G E C V M K M F A L R Q Y Y F T N G W N p.1540
. . . | 27. . . g.95471
GTGTTTGACTTCATTGTGGTGGTTCTCTCCATTGCGA | GCCTGATTTTTTCTGCAATTCTT c.4680
V F D F I V V V L S I A S | L I F S A I L p.1560
. . . . . . g.95531
AAGTCACTTCAAAGTTACTTCTCCCCAACGCTCTTCAGAGTCATCCGCCTGGCCCGAATT c.4740
K S L Q S Y F S P T L F R V I R L A R I p.1580
. . . . . . g.95591
GGCCGCATCCTCAGACTGATCCGAGCGGCCAAGGGGATCCGCACACTGCTCTTTGCCCTC c.4800
G R I L R L I R A A K G I R T L L F A L p.1600
. . . . . . g.95651
ATGATGTCCCTGCCTGCCCTCTTCAACATCGGGCTGTTGCTATTCCTTGTCATGTTCATC c.4860
M M S L P A L F N I G L L L F L V M F I p.1620
. . . . . . g.95711
TACTCTATCTTCGGTATGTCCAGCTTTCCCCATGTGAGGTGGGAGGCTGGCATCGACGAC c.4920
Y S I F G M S S F P H V R W E A G I D D p.1640
. . . . . . g.95771
ATGTTCAACTTCCAGACCTTCGCCAACAGCATGCTGTGCCTCTTCCAGATTACCACGTCG c.4980
M F N F Q T F A N S M L C L F Q I T T S p.1660
. . . . . . g.95831
GCCGGCTGGGATGGCCTCCTCAGCCCCATCCTCAACACAGGGCCCCCCTACTGTGACCCC c.5040
A G W D G L L S P I L N T G P P Y C D P p.1680
. . . . . . g.95891
AATCTGCCCAACAGCAATGGCACCAGAGGGGACTGTGGGAGCCCAGCCGTAGGCATCATC c.5100
N L P N S N G T R G D C G S P A V G I I p.1700
. . . . . . g.95951
TTCTTCACCACCTACATCATCATCTCCTTCCTCATCATGGTCAACATGTACATTGCAGTG c.5160
F F T T Y I I I S F L I M V N M Y I A V p.1720
. . . . . . g.96011
ATTCTGGAGAACTTCAATGTGGCCACGGAGGAGAGCACTGAGCCCCTGAGTGAGGACGAC c.5220
I L E N F N V A T E E S T E P L S E D D p.1740
. . . . . . g.96071
TTTGACATGTTCTATGAGACCTGGGAGAAGTTTGACCCAGAGGCCACTCAGTTTATTACC c.5280
F D M F Y E T W E K F D P E A T Q F I T p.1760
. . . . . . g.96131
TTTTCTGCTCTCTCGGACTTTGCAGACACTCTCTCTGGTCCCCTGAGAATCCCAAAACCC c.5340
F S A L S D F A D T L S G P L R I P K P p.1780
. . . . . . g.96191
AATCGAAATATACTGATCCAGATGGACCTGCCTTTGGTCCCTGGAGATAAGATCCACTGC c.5400
N R N I L I Q M D L P L V P G D K I H C p.1800
. . . . . . g.96251
TTGGACATCCTTTTTGCTTTCACCAAGAATGTCCTAGGAGAATCCGGGGAGTTGGATTCT c.5460
L D I L F A F T K N V L G E S G E L D S p.1820
. . . . . . g.96311
CTGAAGGCAAATATGGAGGAGAAGTTTATGGCAACTAATCTTTCAAAATCATCCTATGAA c.5520
L K A N M E E K F M A T N L S K S S Y E p.1840
. . . . . . g.96371
CCAATAGCAACCACTCTCCGATGGAAGCAAGAAGACATTTCAGCCACTGTCATTCAAAAG c.5580
P I A T T L R W K Q E D I S A T V I Q K p.1860
. . . . . . g.96431
GCCTATCGGAGCTATGTGCTGCACCGCTCCATGGCACTCTCTAACACCCCATGTGTGCCC c.5640
A Y R S Y V L H R S M A L S N T P C V P p.1880
. . . . . . g.96491
AGAGCTGAGGAGGAGGCTGCATCACTCCCAGATGAAGGTTTTGTTGCATTCACAGCAAAT c.5700
R A E E E A A S L P D E G F V A F T A N p.1900
. . . . . . g.96551
GAAAATTGTGTACTCCCAGACAAATCTGAAACTGCTTCTGCCACATCATTCCCACCGTCC c.5760
E N C V L P D K S E T A S A T S F P P S p.1920
. . . . . . g.96611
TATGAGAGTGTCACTAGAGGCCTTAGTGATAGAGTCAACATGAGGACATCTAGCTCAATA c.5820
Y E S V T R G L S D R V N M R T S S S I p.1940
. . . . . g.96662
CAAAATGAAGATGAAGCCACCAGTATGGAGCTGATTGCCCCTGGGCCCTAG c.5871
Q N E D E A T S M E L I A P G P X p.1956
g.96665
tga c.*3
(downstream sequence)
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