(used for variant description)
(last modified March 18, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003944.3 in the SELENBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering SELENBP1 transcript NM_003944.3.
(upstream sequence)
. . . g.5033
tataaattccctcccttcgctccttccccggaa c.-61
. . . . . . g.5093
cagcggcctctgacaccagcacagcaaacccgccgggatcaaagtgtaccagtcggcagc c.-1
| 02 . . . . . . g.8021
ATGG | CTACGAAATGTGGGAATTGTGGACCCGGCTACTCCACCCCTCTGGAGGCCATGAAA c.60
M A | T K C G N C G P G Y S T P L E A M K p.20
| 03 . . . . . . g.8239
G | GACCCAGGGAAGAGATCGTCTACCTGCCCTGCATTTACCGAAACACAGGCACTGAGGCC c.120
G | P R E E I V Y L P C I Y R N T G T E A p.40
. . . . . | 04 . g.8551
CCAGATTATCTGGCCACTGTGGATGTTGACCCCAAGTCTCCCCAGTATTGCCAG | GTCATC c.180
P D Y L A T V D V D P K S P Q Y C Q | V I p.60
. . . . . . g.8611
CACCGGCTGCCCATGCCCAACCTGAAGGACGAGCTGCATCACTCAGGATGGAACACCTGC c.240
H R L P M P N L K D E L H H S G W N T C p.80
. . . . . . g.8671
AGCAGCTGCTTCGGTGATAGCACCAAGTCGCGCACCAAGCTGGTGCTGCCCAGTCTCATC c.300
S S C F G D S T K S R T K L V L P S L I p.100
. . . . . . g.8731
TCCTCTCGCATCTATGTGGTGGACGTGGGCTCTGAGCCCCGGGCCCCAAAGCTGCACAAG c.360
S S R I Y V V D V G S E P R A P K L H K p.120
| 05 . . . . . . g.9475
| GTCATTGAGCCCAAGGACATCCATGCCAAGTGCGAACTGGCCTTTCTCCACACCAGCCAC c.420
| V I E P K D I H A K C E L A F L H T S H p.140
. . . . . . g.9535
TGCCTGGCCAGCGGGGAAGTGATGATCAGCTCCCTGGGAGACGTCAAGGGCAATGGCAAA c.480
C L A S G E V M I S S L G D V K G N G K p.160
| 06 . . . . . . g.10889
G | GGGGTTTTGTGCTGCTGGATGGGGAGACGTTCGAGGTGAAGGGGACATGGGAGAGACCT c.540
G | G F V L L D G E T F E V K G T W E R P p.180
. . . . . . g.10949
GGGGGTGCTGCACCGTTGGGCTATGACTTCTGGTACCAGCCTCGACACAATGTCATGATC c.600
G G A A P L G Y D F W Y Q P R H N V M I p.200
. . . . . . g.11009
AGCACTGAGTGGGCAGCTCCCAATGTCTTACGAGATGGCTTCAACCCCGCTGATGTGGAG c.660
S T E W A A P N V L R D G F N P A D V E p.220
| 07 . . . . . . g.11337
GCTG | GACTGTACGGGAGCCACTTATATGTATGGGACTGGCAGCGCCATGAGATTGTGCAG c.720
A G | L Y G S H L Y V W D W Q R H E I V Q p.240
. . . . . . g.11397
ACCCTGTCTCTAAAAGATGGGCTTATTCCCTTGGAGATCCGCTTCCTGCACAACCCAGAC c.780
T L S L K D G L I P L E I R F L H N P D p.260
. . . . . . g.11457
GCTGCCCAAGGCTTTGTGGGCTGCGCACTCAGCTCCACCATCCAGCGCTTCTACAAGAAC c.840
A A Q G F V G C A L S S T I Q R F Y K N p.280
| 08 . . . . . . g.11945
GAG | GGAGGTACATGGTCAGTGGAGAAGGTGATCCAGGTGCCCCCCAAGAAAGTGAAGGGC c.900
E | G G T W S V E K V I Q V P P K K V K G p.300
. . | 09 . . . . g.12088
TGGCTGCTGCCCGAAATGCCAG | GCCTGATCACCGACATCCTGCTCTCCCTGGACGACCGC c.960
W L L P E M P G | L I T D I L L S L D D R p.320
. . . . . . g.12148
TTCCTCTACTTCAGCAACTGGCTGCATGGGGACCTGAGGCAGTATGACATCTCTGACCCA c.1020
F L Y F S N W L H G D L R Q Y D I S D P p.340
. . | 10 . . . . g.12489
CAGAGACCCCGCCTCACAGGACAG | CTCTTCCTCGGAGGCAGCATTGTTAAGGGAGGCCCT c.1080
Q R P R L T G Q | L F L G G S I V K G G P p.360
. . . . . | 11. g.12693
GTGCAAGTGCTGGAGGACGAGGAACTAAAGTCCCAGCCAGAGCCCCTAGTGGTCAAG | GGA c.1140
V Q V L E D E E L K S Q P E P L V V K | G p.380
. . . . . . g.12753
AAACGGGTGGCTGGAGGCCCTCAGATGATCCAGCTCAGCCTGGATGGGAAGCGCCTCTAC c.1200
K R V A G G P Q M I Q L S L D G K R L Y p.400
. . . . . | 12 . g.13033
ATCACCACGTCGCTGTACAGTGCCTGGGACAAGCAGTTTTACCCTGATCTCATCAG | GGAA c.1260
I T T S L Y S A W D K Q F Y P D L I R | E p.420
. . . . . . g.13093
GGCTCTGTGATGCTGCAGGTTGATGTAGACACAGTAAAAGGAGGGCTGAAGTTGAACCCC c.1320
G S V M L Q V D V D T V K G G L K L N P p.440
. . . . . . g.13153
AACTTCCTGGTGGACTTCGGGAAGGAGCCCCTTGGCCCAGCCCTTGCCCATGAGCTCCGC c.1380
N F L V D F G K E P L G P A L A H E L R p.460
. . . g.13192
TACCCTGGGGGCGATTGTAGCTCTGACATCTGGATTTGA c.1419
Y P G G D C S S D I W I X p.472
. . . . . . g.13252
actccaccctcatcacccacactccctattttgggccctcacttccttggggacctggct c.*60
. . . . . . g.13312
tcattctgctctctcttggcacccgacccttggcagcatgtaccacacagccaagctgag c.*120
. . . . . . g.13372
actgtggcaatgtgttgagtcatatacatttactgaccactgttgcttgttgctcactgt c.*180
. . . . . . g.13432
gctgcttttccatgagctcttggaggcaccaagaaataaactcgtaaccctgtccttcag c.*240
g.13433
a c.*241
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center