(used for variant description)
(last modified July 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000336.2 in the SCNN1B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011908.1, covering SCNN1B transcript NM_000336.2.
(upstream sequence)
. . . . . g.5056
gtgcttccccgcccctgaacctgctccctcccagtcggtctcgccgcgctcgccgg c.-121
. . . . . . g.5116
gtgtcccagtgtcaccaacactcggccgccgccgccagcttggcgcgcaccgccgcctcc c.-61
. . . . . . | 02 g.51330
gccaccgccgacagcgcgcatcctccgtgtccccgctccgccgcccgagcag | gtgccact c.-1
. . . . . . g.51390
ATGCACGTGAAGAAGTACCTGCTGAAGGGCCTGCATCGGCTGCAGAAGGGCCCCGGCTAC c.60
M H V K K Y L L K G L H R L Q K G P G Y p.20
. . . . . . g.51450
ACGTACAAGGAGCTGCTGGTGTGGTACTGCGACAACACCAACACCCACGGCCCCAAGCGC c.120
T Y K E L L V W Y C D N T N T H G P K R p.40
. . . . . . g.51510
ATCATCTGTGAGGGGCCCAAGAAGAAAGCCATGTGGTTCCTGCTCACCCTGCTCTTCGCC c.180
I I C E G P K K K A M W F L L T L L F A p.60
. . . . . . g.51570
GCCCTCGTCTGCTGGCAGTGGGGCATCTTCATCAGGACCTACTTGAGCTGGGAGGTCAGC c.240
A L V C W Q W G I F I R T Y L S W E V S p.80
. . . . . . g.51630
GTCTCCCTCTCCGTAGGCTTCAAGACCATGGACTTCCCTGCCGTCACCATCTGCAATGCT c.300
V S L S V G F K T M D F P A V T I C N A p.100
. | 03 . . . . . g.55580
AGCCCCTTCAA | GTATTCCAAAATCAAGCATTTGCTGAAGGACCTGGATGAGCTGATGGAA c.360
S P F K | Y S K I K H L L K D L D E L M E p.120
. . . . . . g.55640
GCTGTCCTGGAGAGAATCCTGGCTCCTGAGCTAAGCCATGCCAATGCCACCAGGAACCTG c.420
A V L E R I L A P E L S H A N A T R N L p.140
. . . . . . g.55700
AACTTCTCCATCTGGAACCACACACCCCTGGTCCTTATTGATGAACGGAACCCCCACCAC c.480
N F S I W N H T P L V L I D E R N P H H p.160
. . . . . . g.55760
CCCATGGTCCTTGATCTCTTTGGAGACAACCACAATGGCTTAACAAGCAGCTCAGCATCA c.540
P M V L D L F G D N H N G L T S S S A S p.180
. . . . | 04 . . g.58044
GAAAAGATCTGTAATGCCCACGGGTGCAAAATGGCCATGAGACTA | TGTAGCCTCAACAGG c.600
E K I C N A H G C K M A M R L | C S L N R p.200
. . . . . . g.58104
ACCCAGTGTACCTTCCGGAACTTCACCAGTGCTACCCAGGCATTGACAGAGTGGTACATC c.660
T Q C T F R N F T S A T Q A L T E W Y I p.220
. . . . . . g.58164
CTGCAGGCCACCAACATCTTTGCACAGGTGCCACAGCAGGAGCTAGTAGAGATGAGCTAC c.720
L Q A T N I F A Q V P Q Q E L V E M S Y p.240
. . . . . | 05 . g.70590
CCCGGCGAGCAGATGATCCTGGCCTGCCTATTCGGAGCTGAGCCCTGCAACTACCG | GAAC c.780
P G E Q M I L A C L F G A E P C N Y R | N p.260
. . . . . . g.70650
TTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACA c.840
F T S I F Y P H Y G N C Y I F N W G M T p.280
. . . . | 06 . . g.74049
GAGAAGGCACTTCCTTCGGCCAACCCTGGAACTGAATTCG | GCCTGAAGTTGATCCTGGAC c.900
E K A L P S A N P G T E F G | L K L I L D p.300
. . . . . . g.74109
ATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTT c.960
I G Q E D Y V P F L A S T A G V R L M L p.320
. . . . . . g.74169
CACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACA c.1020
H E Q R S Y P F I R D E G I Y A M S G T p.340
. . | 07 . . . . g.74542
GAGACGTCCATCGGGGTACTCGTG | GACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCG c.1080
E T S I G V L V | D K L Q R M G E P Y S P p.360
. . . . . . g.74602
TGCACCGTGAATGGTTCTGAGGTCCCCGTCCAAAACTTCTACAGTGACTACAACACGACC c.1140
C T V N G S E V P V Q N F Y S D Y N T T p.380
. | 08 . . . . . g.78516
TACTCCATCCAG | GCCTGTCTTCGCTCCTGCTTCCAAGACCACATGATCCGTAACTGCAAC c.1200
Y S I Q | A C L R S C F Q D H M I R N C N p.400
. . . . . . g.78576
TGTGGCCACTACCTGTACCCACTGCCCCGTGGGGAGAAATACTGCAACAACCGGGACTTC c.1260
C G H Y L Y P L P R G E K Y C N N R D F p.420
. | 09 . . . . . g.79945
CCAGACTGGG | CCCATTGCTACTCAGATCTACAGATGAGCGTGGCGCAGAGAGAGACCTGC c.1320
P D W A | H C Y S D L Q M S V A Q R E T C p.440
. . | 10 . . . . g.80093
ATTGGCATGTGCAAGGAGTCCTGCAA | TGACACCCAGTACAAGATGACCATCTCCATGGCT c.1380
I G M C K E S C N | D T Q Y K M T I S M A p.460
. . | 11 . . . . g.81472
GACTGGCCTTCTGAGGCCTCCGAG | GACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGAC c.1440
D W P S E A S E | D W I F H V L S Q E R D p.480
. . | 12 . . . . g.82858
CAAAGCACCAATATCACCCTGAGCAG | GAAGGGAATTGTCAAGCTCAACATCTACTTCCAA c.1500
Q S T N I T L S R | K G I V K L N I Y F Q p.500
. . . . | 13 . . g.83169
GAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAAC | ATCGTCTGGCTGCTCTCG c.1560
E F N Y R T I E E S A A N N | I V W L L S p.520
. . . . . . g.83229
AATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTT c.1620
N L G G Q F G F W M G G S V L C L I E F p.540
. . . . . . g.83289
GGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAG c.1680
G E I I I D F V W I T I I K L V A L A K p.560
. . . . . . g.83349
AGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAG c.1740
S L R Q R R A Q A S Y A G P P P T V A E p.580
. . . . . . g.83409
CTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAAC c.1800
L V E A H T N F G F Q P D T A P R S P N p.600
. . . . . . g.83469
ACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTAT c.1860
T G P Y P S E Q A L P I P G T P P P N Y p.620
. . . . . . g.83529
GACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATC c.1920
D S L R L Q P L D V I E S D S E G D A I p.640
g.83532
TAA c.1923
X p.640
. . . . . . g.83592
ccctgcccctgcccaccccgggcggctgaaactcactgagcagccaagactgttgcccga c.*60
. . . . . . g.83652
ggcctcactgtatggtgccctctccaaagggtcgggagggtagctctccaggccagagct c.*120
. . . . . . g.83712
tgtgtccttcaacagagaggccagcggcaactggtccgttactggccaagggctctgtag c.*180
. . . . . . g.83772
aatcacggtgctggtacaggatgcaggaataaattgtatcttcacctggttcctaccctc c.*240
. . . . . . g.83832
gtccctacctgtcctgatcctggtcctgaagacccctcggaacaccctctcctggtggca c.*300
. . . . . . g.83892
ggccacttccctcccagtgccagtctccatccaccccagagaggaacaggcgggtgggcc c.*360
. . . . . . g.83952
atgtggttttctccttcctggccttggctggcctctggggcaggggtggtggagagatgg c.*420
. . . . . . g.84012
aagggcatcaggtgtagggaccctgccaagtggcacctgatttactctagaaaataaaag c.*480
. g.84030
tagaaaatactgagtcca c.*498
(downstream sequence)
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