(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_004328.4 in the BCS1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering BCS1L transcript NM_004328.4.
(upstream sequence)
. . . . g.5046
gaaaggacccggggcggggccgaacgcagcttccccaaggtgcagg c.-301
. . . . . | 02 . g.5399
cgcggtgaaaccatcgagacggagggccagagagtcacggcg | gatcttattgtctacgat c.-241
. . . . . . g.5459
gtgacgatccgtggagaaagtagcagatgggcagattttcatttggggagaatgagggag c.-181
. . . . . . g.5519
aaaagaacgggcattccgagccaagagcactgcatgagcaaggagttgggaggttgctta c.-121
. . . . . . g.5579
cttgttgaacatatttgttgcgtatttgcatatttgctaaacaggtagtgttaggagcta c.-61
. . | 03 . . . . g.6332
atccatgaaag | gttttcgtaacaccccagggcctgtaaggtttggtgtttccctttcaag c.-1
. . . . . . g.6392
ATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTT c.60
M P L S D F I L A L K D N P Y F G A G F p.20
. . . . . . g.6452
GGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTG c.120
G L V G V G T A L A L A R K G V Q L G L p.40
. . . . . . g.6512
GTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTAT c.180
V A F R R H Y M I T L E V P A R D R S Y p.60
. . . . . . g.6572
GCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAG c.240
A W L L S W L T R H S T R T Q H L S V E p.80
. . . . . . g.6632
ACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGC c.300
T S Y L Q H E S G R I S T K F E F V P S p.100
. . | 04 . . . . g.6790
CCTGGAAACCATTTTATCTG | GTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAG c.360
P G N H F I W | Y R G K W I R V E R S R E p.120
. . . . . . g.6850
ATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTG c.420
M Q M I D L Q T G T P W E S V T F T A L p.140
. . . . | 05 . . g.7123
GGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAG | CTCGAGAGCTAGCCTTGCAG c.480
G T D R K V F F N I L E E A | R E L A L Q p.160
. . . . . . g.7183
CAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGC c.540
Q E E G K T V M Y T A V G S E W R P F G p.180
. . . . . . g.7243
TATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGA c.600
Y P R R R R P L N S V V L Q Q G L A D R p.200
. . . . . | 06 . g.7546
ATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAG | GCATT c.660
I V R D V Q E F I D N P K W Y T D R G | I p.220
. . . . . | 07 g.7855
CCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTAT | C c.720
P Y R R G Y L L Y G P P G C G K S S F I | p.240
. . . . . . g.7915
ACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGC c.780
T A L A G E L E H S I C L L S L T D S S p.260
. . . . . . g.7975
CTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTC c.840
L S D D R L N H L L S V A P Q Q S L V L p.280
. . . . | 08 . g.8238
CTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGA | ACCCAGTAAAG c.900
L E D V D A A F L S R D L A V E N | P V K p.300
. . . . . . g.8298
TACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCT c.960
Y Q G L G R L T F S G L L N A L D G V A p.320
. . . . | 09. . g.8491
TCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAG | GCTGGACCCTGCC c.1020
S T E A R I V F M T T N H V D R | L D P A p.340
. . . . . . g.8551
CTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAG c.1080
L I R P G R V D L K E Y V G Y C S H W Q p.360
. . . . . . g.8611
CTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT c.1140
L T Q M F Q R F Y P G Q A P S L A E N F p.380
. . . . . . g.8671
GCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTC c.1200
A E H V L R A T N Q I S P A Q V Q G Y F p.400
. . . . . . g.8731
ATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGA c.1260
M L Y K N D P V G A I H N A E S L R R X p.419
. . . . . g.8788
tcaggctgggctcagctcagctctcctcctctagctcaataaacatctgccacacta c.*57
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build beta-07
©2004-2012 Leiden University Medical Center