(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006744.3 in the RBP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009104.1, covering RBP4 transcript NM_006744.3.
(upstream sequence)
. . g.5024
cgcctccctcgctccacgcgcgcc c.-61
. . . . . | 02 . g.5208
cggactcggcggccaggcttgcgcgcggttcccctcccggtg | ggcggattcctgggcaag c.-1
. . . . . . g.5268
ATGAAGTGGGTGTGGGCGCTCTTGCTGTTGGCGGCGCTGGGCAGCGGCCGCGCGGAGCGC c.60
M K W V W A L L L L A A L G S G R A E R p.20
. . . . . | 03 . g.5442
GACTGCCGAGTGAGCAGCTTCCGAGTCAAGGAGAACTTCGACAAGGCTCGC | TTCTCTGGG c.120
D C R V S S F R V K E N F D K A R | F S G p.40
. . . . . . g.5502
ACCTGGTACGCCATGGCCAAGAAGGACCCCGAGGGCCTCTTTCTGCAGGACAACATCGTC c.180
T W Y A M A K K D P E G L F L Q D N I V p.60
. . . . . . g.5562
GCGGAGTTCTCCGTGGACGAGACCGGCCAGATGAGCGCCACAGCCAAGGGCCGAGTCCGT c.240
A E F S V D E T G Q M S A T A K G R V R p.80
| 04 . . . . . g.5789
CTTTTGAA | TAACTGGGACGTGTGCGCAGACATGGTGGGCACCTTCACAGACACCGAGGAC c.300
L L N | N W D V C A D M V G T F T D T E D p.100
. . . . . | 05 . g.12206
CCTGCCAAGTTCAAGATGAAGTACTGGGGCGTAGCCTCCTTTCTCCAGAAAGGAA | ATGAT c.360
P A K F K M K Y W G V A S F L Q K G N | D p.120
. . . . . . g.12266
GACCACTGGATCGTCGACACAGACTACGACACGTATGCCGTGCAGTACTCCTGCCGCCTC c.420
D H W I V D T D Y D T Y A V Q Y S C R L p.140
. . . . . . g.12326
CTGAACCTCGATGGCACCTGTGCTGACAGCTACTCCTTCGTGTTTTCCCGGGACCCCAAC c.480
L N L D G T C A D S Y S F V F S R D P N p.160
. . . . . . g.12386
GGCCTGCCCCCAGAAGCGCAGAAGATTGTAAGGCAGCGGCAGGAGGAGCTGTGCCTGGCC c.540
G L P P E A Q K I V R Q R Q E E L C L A p.180
. . | 06 . . . g.14156
AGGCAGTACAGGCTGATCGTCCACAACG | GTTACTGCGATGGCAGATCAGAAAGAAACCTT c.600
R Q Y R L I V H N G | Y C D G R S E R N L p.200
g.14162
TTGTAG c.606
L X p.201
. . . . . . g.14222
caatatcaagaatctagtttcatctgagaacttctgattagctctcagtcttcagctcta c.*60
. . . . . . g.14282
tttatcttaggagtttaatttgcccttctctccccatcttccctcagttcccataaaacc c.*120
. . . . . . g.14342
ttcattacacataaagatacacgtgggggtcagtgaatctgcttgcctttcctgaaagtt c.*180
. . . . . g.14401
tctggggcttaagattccagactctgattcattaaactatagtcacccgtgtcctgtga c.*239
(downstream sequence)
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