(used for variant description)
(last modified February 14, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000574.3 in the CD55 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CD55 transcript NM_000574.3.
(upstream sequence)
. . . . . g.5054
agcgagctcctcctccttcccctccccactctccccgagtctagggcccccggg c.-241
. . . . . . g.5114
gcgtatgacgccggagccctctgaccgcacctctgaccacaacaaacccctactccaccc c.-181
. . . . . . g.5174
gtcttgtttgtcccacccttggtgacgcagagccccagcccagaccccgcccaaagcact c.-121
. . . . . . g.5234
catttaactggtattgcggagccacgaggcttctgcttactgcaactcgctccggccgct c.-61
. . . . . . g.5294
gggcgtagctgcgactcggcggagtcccggcggcgcgtccttgttctaacccggcgcgcc c.-1
. . . . . . g.5354
ATGACCGTCGCGCGGCCGAGCGTGCCCGCGGCGCTGCCCCTCCTCGGGGAGCTGCCCCGG c.60
M T V A R P S V P A A L P L L G E L P R p.20
. . . . | 02 . . g.5930
CTGCTGCTGCTGGTGCTGTTGTGCCTGCCGGCCGTGTGGG | GTGACTGTGGCCTTCCCCCA c.120
L L L L V L L C L P A V W G | D C G L P P p.40
. . . . . . g.5990
GATGTACCTAATGCCCAGCCAGCTTTGGAAGGCCGTACAAGTTTTCCCGAGGATACTGTA c.180
D V P N A Q P A L E G R T S F P E D T V p.60
. . . . . . g.6050
ATAACGTACAAATGTGAAGAAAGCTTTGTGAAAATTCCTGGCGAGAAGGACTCAGTGATC c.240
I T Y K C E E S F V K I P G E K D S V I p.80
. . . . | 03 . . g.8101
TGCCTTAAGGGCAGTCAATGGTCAGATATTGAAGAGTTCTGCAATC | GTAGCTGCGAGGTG c.300
C L K G S Q W S D I E E F C N R | S C E V p.100
. . . . . . g.8161
CCAACAAGGCTAAATTCTGCATCCCTCAAACAGCCTTATATCACTCAGAATTATTTTCCA c.360
P T R L N S A S L K Q P Y I T Q N Y F P p.120
. . . . . . g.8221
GTCGGTACTGTTGTGGAATATGAGTGCCGTCCAGGTTACAGAAGAGAACCTTCTCTATCA c.420
V G T V V E Y E C R P G Y R R E P S L S p.140
. . . . . | 04 g.9152
CCAAAACTAACTTGCCTTCAGAATTTAAAATGGTCCACAGCAGTCGAATTTTGTAAAA | AG c.480
P K L T C L Q N L K W S T A V E F C K K | p.160
. . . . . . g.9212
AAATCATGCCCTAATCCGGGAGAAATACGAAATGGTCAGATTGATGTACCAGGTGGCATA c.540
K S C P N P G E I R N G Q I D V P G G I p.180
. . . | 05 . . g.10302
TTATTTGGTGCAACCATCTCCTTCTCATGTAACACAGG | GTACAAATTATTTGGCTCGACT c.600
L F G A T I S F S C N T G | Y K L F G S T p.200
. . . . . . g.10362
TCTAGTTTTTGTCTTATTTCAGGCAGCTCTGTCCAGTGGAGTGACCCGTTGCCAGAGTGC c.660
S S F C L I S G S S V Q W S D P L P E C p.220
| 06 . . . . . . g.14692
AGAG | AAATTTATTGTCCAGCACCACCACAAATTGACAATGGAATAATTCAAGGGGAACGT c.720
R E | I Y C P A P P Q I D N G I I Q G E R p.240
. . . . . . g.14752
GACCATTATGGATATAGACAGTCTGTAACGTATGCATGTAATAAAGGATTCACCATGATT c.780
D H Y G Y R Q S V T Y A C N K G F T M I p.260
. . . . . . g.14812
GGAGAGCACTCTATTTATTGTACTGTGAATAATGATGAAGGAGAGTGGAGTGGCCCACCA c.840
G E H S I Y C T V N N D E G E W S G P P p.280
. | 07 . . . . . g.20268
CCTGAATGCAGAG | GAAAATCTCTAACTTCCAAGGTCCCACCAACAGTTCAGAAACCTACC c.900
P E C R G | K S L T S K V P P T V Q K P T p.300
. . . . . . g.20328
ACAGTAAATGTTCCAACTACAGAAGTCTCACCAACTTCTCAGAAAACCACCACAAAAACC c.960
T V N V P T T E V S P T S Q K T T T K T p.320
. | 08 . . . . g.20898
ACCACACCAAATGCTCAAG | CAACACGGAGTACACCTGTTTCCAGGACAACCAAGCATTTT c.1020
T T P N A Q A | T R S T P V S R T T K H F p.340
. . . . | 09 . . g.22945
CATGAAACAACCCCAAATAAAGGAAGTGGAACCACTTCAG | GTACTACCCGTCTTCTATCT c.1080
H E T T P N K G S G T T S G | T T R L L S p.360
| 10 . . . . . . g.43133
G | GGCACACGTGTTTCACGTTGACAGGTTTGCTTGGGACGCTAGTAACCATGGGCTTGCTG c.1140
G | H T C F T L T G L L G T L V T M G L L p.380
g.43139
ACTTAG c.1146
T X p.381
. . . . . . g.43199
ccaaagaagagttaagaagaaaatacacacaagtatacagactgttcctagtttcttaga c.*60
. . . . . . g.43259
cttatctgcatattggataaaataaatgcaattgtgctcttcatttaggatgctttcatt c.*120
. . . . . . g.43319
gtctttaagatgtgttaggaatgtcaacagagcaaggagaaaaaaggcagtcctggaatc c.*180
. . . . . . g.43379
acattcttagcacacctacacctcttgaaaatagaacaacttgcagaattgagagtgatt c.*240
. . . . . . g.43439
cctttcctaaaagtgtaagaaagcatagagatttgttcgtatttagaatgggatcacgag c.*300
. . . . . . g.43499
gaaaagagaaggaaagtgatttttttccacaagatctgtaatgttatttccacttataaa c.*360
. . . . . . g.43559
ggaaataaaaaatgaaaaacattatttggatatcaaaagcaaataaaaacccaattcagt c.*420
. . . . . . g.43619
ctcttctaagcaaaattgctaaagagagatgaaccacattataaagtaatctttggctgt c.*480
. . . . . . g.43679
aaggcattttcatctttccttcgggttggcaaaatattttaaaggtaaaacatgctggtg c.*540
. . . . . . g.43739
aaccaggggtgttgatggtgataagggaggaatatagaatgaaagactgaatcttccttt c.*600
. . . . . . g.43799
gttgcacaaatagagtttggaaaaagcctgtgaaaggtgtcttctttgacttaatgtctt c.*660
. . . . . . g.43859
taaaagtatccagagatactacaatattaacataagaaaagattatatattatttctgaa c.*720
. . . . . . g.43919
tcgagatgtccatagtcaaatttgtaaatcttattcttttgtaatatttatttatattta c.*780
. . . . . . g.43979
tttatgacagtgaacattctgattttacatgtaaaacaagaaaagttgaagaagatatgt c.*840
. . . . . . g.44039
gaagaaaaatgtatttttcctaaatagaaataaatgatcccattttttggtatcatgtag c.*900
. . . . . . g.44099
tatgtgaaatttattcttaaacgtgactactttatttctaaataagaaattccctacctg c.*960
. . . . . . g.44159
cttcctacaagcagttcagaatgccatgccttggttgtcctagtgtgaataattttcagc c.*1020
. . . . . . g.44219
tactttaaaattatattgtactttctcaagcatgtcatatcctttcctattagagtatct c.*1080
. . . . . . g.44279
atattacttgttactgatttacctgaaggcaatctgattaatttctaggtttttaccata c.*1140
. . . . . . g.44339
ttcttgtcatcttgccaattacattttaagtgttagactagactaagatgtactagttgt c.*1200
. . . . . . g.44399
atagaatataactagatttattatggcaatgtttattttgtcattttgcttcatctgttt c.*1260
. . . . . . g.44459
tgttgttgaagtactttaaatttcatacgttcatggcatttcactgtaaagactttaatg c.*1320
. . . g.44495
tgtatttcttaaaataaaactttttttcctccttaa c.*1356
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center