(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the FCGR2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FCGR2A transcript NM_021642.3.
(upstream sequence)
. . . . . g.1053
ctcttttctaagcttgtctcttaaaacccactggacgttggcacagtgctggg c.-1
. . . . . . g.1113
ATGACTATGGAGACCCAAATGTCTCAGAATGTATGTCCCAGAAACCTGTGGCTGCTTCAA c.60
M T M E T Q M S Q N V C P R N L W L L Q p.20
. . | 02 . . | 03 . . g.1936
CCATTGACAGTTTTGCTGCTGCTGG | CTTCTGCAGACAGTCAAGCTG | CTCCCCCAAAGGCT c.120
P L T V L L L L A | S A D S Q A A | P P K A p.40
. . . . . . g.1996
GTGCTGAAACTTGAGCCCCCGTGGATCAACGTGCTCCAGGAGGACTCTGTGACTCTGACA c.180
V L K L E P P W I N V L Q E D S V T L T p.60
. . . . . . g.2056
TGCCAGGGGGCTCGCAGCCCTGAGAGCGACTCCATTCAGTGGTTCCACAATGGGAATCTC c.240
C Q G A R S P E S D S I Q W F H N G N L p.80
. . . . . . g.2116
ATTCCCACCCACACGCAGCCCAGCTACAGGTTCAAGGCCAACAACAATGACAGCGGGGAG c.300
I P T H T Q P S Y R F K A N N N D S G E p.100
. . . . . . g.2176
TACACGTGCCAGACTGGCCAGACCAGCCTCAGCGACCCTGTGCATCTGACTGTGCTTTCC c.360
Y T C Q T G Q T S L S D P V H L T V L S p.120
| 04 . . . . . . g.5464
G | AATGGCTGGTGCTCCAGACCCCTCACCTGGAGTTCCAGGAGGGAGAAACCATCATGCTG c.420
E | W L V L Q T P H L E F Q E G E T I M L p.140
. . . . . . g.5524
AGGTGCCACAGCTGGAAGGACAAGCCTCTGGTCAAGGTCACATTCTTCCAGAATGGAAAA c.480
R C H S W K D K P L V K V T F F Q N G K p.160
. . . . . . g.5584
TCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCATCCCACAAGCAAACCACAGTCAC c.540
S Q K F S H L D P T F S I P Q A N H S H p.180
. . . . . . g.5644
AGTGGTGATTACCACTGCACAGGAAACATAGGCTACACGCTGTTCTCATCCAAGCCTGTG c.600
S G D Y H C T G N I G Y T L F S S K P V p.200
. | 05 . . . . . g.6463
ACCATCACTGTCCAAG | TGCCCAGCATGGGCAGCTCTTCACCAATGGGGATCATTGTGGCT c.660
T I T V Q V | P S M G S S S P M G I I V A p.220
. . . . . . g.6523
GTGGTCATTGCGACTGCTGTAGCAGCCATTGTTGCTGCTGTAGTGGCCTTGATCTACTGC c.720
V V I A T A V A A I V A A V V A L I Y C p.240
. | 06 . . . | 07. g.13563
AGGAAAAAGCGGATTTCAG | CCAATTCCACTGATCCTGTGAAGGCTGCCCAATTTGAG | CCA c.780
R K K R I S A | N S T D P V K A A Q F E | P p.260
. . . . . . g.13623
CCTGGACGTCAAATGATTGCCATCAGAAAGAGACAACTTGAAGAAACCAACAATGACTAT c.840
P G R Q M I A I R K R Q L E E T N N D Y p.280
. . . . . . g.13683
GAAACAGCTGACGGCGGCTACATGACTCTGAACCCCAGGGCACCTACTGACGATGATAAA c.900
E T A D G G Y M T L N P R A P T D D D K p.300
. . . . . g.13734
AACATCTACCTGACTCTTCCTCCCAACGACCATGTCAACAGTAATAACTAA c.951
N I Y L T L P P N D H V N S N N X p.316
. . . . . . g.13794
agagtaacgttatgccatgtggtcatactctcagcttgctgagtggatgacaaaaagagg c.*60
. . . . . . g.13854
ggaattgttaaaggaaaatttaaatggagactggaaaaatcctgagcaaacaaaaccacc c.*120
. . . . . . g.13914
tggcccttagaaatagctttaactttgcttaaactacaaacacaagcaaaacttcacggg c.*180
. . . . . . g.13974
gtcatactacatacaagcataagcaaaacttaacttggatcatttctggtaaatgcttat c.*240
. . . . . . g.14034
gttagaaataagacaaccccagccaatcacaagcagcctactaacatataattaggtgac c.*300
. . . . . . g.14094
tagggactttctaagaagatacctacccccaaaaaacaattatgtaattgaaaaccaacc c.*360
. . . . . . g.14154
gattgcctttattttgcttccacattttcccaataaatacttgcctgtgacattttgcca c.*420
. . . . . . g.14214
ctggaacactaaacttcatgaattgcgcctcagatttttcctttaacatctttttttttt c.*480
. . . . . . g.14274
ttgacagagtctcaatctgttacccaggctggagtgcagtggtgctatcttggctcactg c.*540
. . . . . . g.14334
caaacccgcctcccaggtttaagcgattctcatgcctcagcctcccagtagctgggatta c.*600
. . . . . . g.14394
gaggcatgtgccatcatacccagctaatttttgtattttttattttttttttttagtaga c.*660
. . . . . . g.14454
gacagggtttcgcaatgttggccaggccgatctcgaacttctggcctctagcgatctgcc c.*720
. . . . . . g.14514
cgcctcggcctcccaaagtgctgggatgaccagcatcagccccaatgtccagcctcttta c.*780
. . . . . . g.14574
acatcttctttcctatgccctctctgtggatccctactgctggtttctgccttctccatg c.*840
. . . . . . g.14634
ctgagaacaaaatcacctattcactgcttatgcagtcggaagctccagaagaacaaagag c.*900
. . . . . . g.14694
cccaattaccagaaccacattaagtctccattgttttgccttgggatttgagaagagaat c.*960
. . . . . . g.14754
tagagaggtgaggatctggtatttcctggactaaattccccttggggaagacgaagggat c.*1020
. . . . . . g.14814
gctgcagttccaaaagagaaggactcttccagagtcatctacctgagtcccaaagctccc c.*1080
. . . . . . g.14874
tgtcctgaaagccacagacaatatggtcccaaatgactgactgcaccttctgtgcctcag c.*1140
. . . . . . g.14934
ccgttcttgacatcaagaatcttctgttccacatccacacagccaatacaattagtcaaa c.*1200
. . . . . . g.14994
ccactgttattaacagatgtagcaacatgagaaacgcttatgttacaggttacatgagag c.*1260
. . . . . . g.15054
caatcatgtaagtctatatgacttcagaaatgttaaaatagactaacctctaacaacaaa c.*1320
. . . . . . g.15114
ttaaaagtgattgtttcaaggtgatgcaattattgatgacctattttatttttctataat c.*1380
. . . . g.15156
gatcatatattacctttgtaataaaacattataaccaaaaca c.*1422
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center