(used for variant description)
(last modified January 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_021023.5 in the CFHR3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015993.1, covering CFHR3 transcript NM_021023.5.
(upstream sequence)
. . g.5027
acacttggtaactaataatgaaagatt c.-61
. . . . . . g.5087
tcaaaccccaaacagtgcaactgaaacttttgtattagcatactactgagaatatctaac c.-1
. . . . . | 02 g.9364
ATGTTGTTACTAATCAATGTCATTCTGACCTTGTGGGTTTCCTGTGCTAATGGACAAG | TG c.60
M L L L I N V I L T L W V S C A N G Q V | p.20
. . . . . . g.9424
AAACCTTGTGATTTTCCAGACATTAAACATGGAGGTCTATTTCATGAGAATATGCGTAGA c.120
K P C D F P D I K H G G L F H E N M R R p.40
. . . . . . g.9484
CCATACTTTCCAGTAGCTGTAGGAAAATATTACTCCTATTACTGTGATGAACATTTTGAG c.180
P Y F P V A V G K Y Y S Y Y C D E H F E p.60
. . . . . . g.9544
ACTCCTTCAGGAAGTTACTGGGATTACATTCATTGCACACAAAATGGGTGGTCACCAGCA c.240
T P S G S Y W D Y I H C T Q N G W S P A p.80
. | 03 . . . . . g.10044
GTACCATGTCTCA | GAAAATGTTATTTTCCTTATTTGGAAAATGGATATAATCAAAATTAT c.300
V P C L R | K C Y F P Y L E N G Y N Q N Y p.100
. . . . . . g.10104
GGAAGAAAGTTTGTACAGGGTAACTCTACAGAAGTTGCCTGCCATCCTGGCTACGGTCTT c.360
G R K F V Q G N S T E V A C H P G Y G L p.120
. . . . . . g.10164
CCAAAAGCGCAGACCACAGTTACATGTACGGAGAAAGGCTGGTCTCCTACTCCCAGATGC c.420
P K A Q T T V T C T E K G W S P T P R C p.140
. | 04 . . . . . g.18466
ATCCGTGTCA | GAACATGCTCAAAATCAGATATAGAAATTGAAAATGGATTCATTTCCGAA c.480
I R V R | T C S K S D I E I E N G F I S E p.160
. . . . . . g.18526
TCTTCCTCTATTTATATTTTAAATAAAGAAATACAATATAAATGTAAACCAGGATATGCA c.540
S S S I Y I L N K E I Q Y K C K P G Y A p.180
. . . . . . g.18586
ACAGCAGATGGAAATTCTTCAGGATCAATTACATGTTTGCAAAATGGATGGTCAGCACAA c.600
T A D G N S S G S I T C L Q N G W S A Q p.200
. | 05 . . . . . g.20292
CCAATTTGCATTA | ATTCTTCAGAAAAGTGTGGGCCTCCTCCACCTATTAGCAATGGTGAT c.660
P I C I N | S S E K C G P P P P I S N G D p.220
. . . . . . g.20352
ACCACCTCCTTTCTACTAAAAGTGTATGTGCCACAGTCAAGAGTCGAGTACCAATGCCAG c.720
T T S F L L K V Y V P Q S R V E Y Q C Q p.240
. . . . . . g.20412
CCCTACTATGAACTTCAGGGTTCTAATTATGTAACATGTAGTAATGGAGAGTGGTCGGAA c.780
P Y Y E L Q G S N Y V T C S N G E W S E p.260
. | 06 . . . . . g.23561
CCACCAAGATGCATAC | ATCCATGTATAATAACTGAAGAAAACATGAATAAAAATAACATA c.840
P P R C I H | P C I I T E E N M N K N N I p.280
. . . . . . g.23621
AAGTTAAAAGGAAGAAGTGACAGAAAATATTATGCAAAAACAGGGGATACCATTGAATTT c.900
K L K G R S D R K Y Y A K T G D T I E F p.300
. . . . . . g.23681
ATGTGTAAATTGGGATATAATGCAAATACATCAATTCTATCATTTCAAGCAGTGTGTCGG c.960
M C K L G Y N A N T S I L S F Q A V C R p.320
. . . g.23714
GAAGGGATAGTGGAATACCCCAGATGCGAATAA c.993
E G I V E Y P R C E X p.330
. . . . . . g.23774
ggcagcattgttaccctaaatgtatgtccaacttccacttttccacttctcactcttatg c.*60
. . . . . . g.23834
gtctcaaagcttgcaaagatagcttctgatattgttgtaatttctactttatttcaaaga c.*120
. . . . . . g.23894
aaattaatataatagtttcaatttgcaacttaatatattctcaaaaatatattaaaacaa c.*180
. . . . . . g.23954
actaaattattgcttatgcttgtactaaaataataaaaactactcttatattggacttct c.*240
. . . . . . g.24014
tatcaatgaattagtaagtatagagacagacagctgaatggctttctgcatattgtatag c.*300
. . . . . . g.24074
tatacctagacatagaaacaaaatgactttagattttatttggggaagtaataataccat c.*360
. . . . . . g.24134
aaaattagatattaaaattgtaagtgaagataaacacactatagtattcccttattgtag c.*420
. . . . . . g.24194
ccatggtcctctagatgcagttaaccaaatagggtcatttttattaaaagtagtgtttcc c.*480
. . . . . . g.24254
tggcaaacactgacattacatcattatcatgatttaaaggaaatagtactagagaaggtg c.*540
. . g.24274
aattattatcattttcctgt c.*560
(downstream sequence)
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