(used for mutation description)
(last modified April 25, 2014)
This file was created to facilitate the description of sequence variants in the SERPING1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering SERPING1 transcript NM_000062.2.
(upstream sequence)
. g.1011
ctgatttacag c.-181
. . . . . . g.1071
gaactcacaccagcgatcaatcttccttaatttgtaactgggcagtgtcccgggccagcc c.-121
. . . . . . g.1131
aatagctaagactgccccccccgcaccccaccctccctgaccctgggggactctctactc c.-61
. . . . | 02. . g.1717
agtctgcactggagctgcctggtgaccagaagtttgga | gtccgctgacgtcgccgcccag c.-1
. . . . . | 03 . g.3334
ATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGG | GATAGAGCC c.60
M A S R L T L L T L L L L L L A G | D R A p.20
. . . . . . g.3394
TCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGA c.120
S S N P N A T S S S S Q D P E S L Q D R p.40
. . . . . . g.3454
GGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTG c.180
G E G K V A T T V I S K M L F V E P I L p.60
. . . . . . g.3514
GAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCT c.240
E V S S L P T T N S T T N S A T K I T A p.80
. . . . . . g.3574
AATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATC c.300
N T T D E P T T Q P T T E P T T Q P T I p.100
. . . . . . g.3634
CAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGG c.360
Q P T Q P T T Q L P T D S P T Q P T T G p.120
. . . . . . g.3694
TCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCC c.420
S F C P G P V T L C S D L E S H S T E A p.140
. . . . . . g.3754
GTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATG c.480
V L G D A L V D F S L K L Y H A F S A M p.160
. . . . . . g.3814
AAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAG c.540
K K V E T N M A F S P F S I A S L L T Q p.180
. | 04 . . . . . g.5531
GTCCTGCTCG | GGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCC c.600
V L L G | A G E N T K T N L E S I L S Y P p.200
. . . . . . g.5591
AAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCA c.660
K D F T C V H Q A L K G F T T K G V T S p.220
. . | 05 . . . . g.9491
GTCTCTCAGATCTTCCACAGCCCAG | ACCTGGCCATAAGGGACACCTTTGTGAATGCCTCT c.720
V S Q I F H S P D | L A I R D T F V N A S p.240
. . . . . . g.9551
CGGACCCTGTACAGCAGCAGCCCCAGAGTCCTAAGCAACAACAGTGACGCCAACTTGGAG c.780
R T L Y S S S P R V L S N N S D A N L E p.260
. . . . . . g.9611
CTCATCAACACCTGGGTGGCCAAGAACACCAACAACAAGATCAGCCGGCTGCTAGACAGT c.840
L I N T W V A K N T N N K I S R L L D S p.280
. . . . | 06 . g.9865
CTGCCCTCCGATACCCGCCTTGTCCTCCTCAATGCTATCTACCTGAGTG | CCAAGTGGAAG c.900
L P S D T R L V L L N A I Y L S A | K W K p.300
. . . . . . g.9925
ACAACATTTGATCCCAAGAAAACCAGAATGGAACCCTTTCACTTCAAAAACTCAGTTATA c.960
T T F D P K K T R M E P F H F K N S V I p.320
. . . . . . g.9985
AAAGTGCCCATGATGAATAGCAAGAAGTACCCTGTGGCCCATTTCATTGACCAAACTTTG c.1020
K V P M M N S K K Y P V A H F I D Q T L p.340
| 07 . . . . . g.15214
AAAGCCAAG | GTGGGGCAGCTGCAGCTCTCCCACAATCTGAGTTTGGTGATCCTGGTACCC c.1080
K A K | V G Q L Q L S H N L S L V I L V P p.360
. . . . . . g.15274
CAGAACCTGAAACATCGTCTTGAAGACATGGAACAGGCTCTCAGCCCTTCTGTTTTCAAG c.1140
Q N L K H R L E D M E Q A L S P S V F K p.380
. . . . . . g.15334
GCCATCATGGAGAAACTGGAGATGTCCAAGTTCCAGCCCACTCTCCTAACACTACCCCGC c.1200
A I M E K L E M S K F Q P T L L T L P R p.400
. . . . | 08 . g.17785
ATCAAAGTGACGACCAGCCAGGATATGCTCTCAATCATGGAGAAATTGG | AATTCTTCGAT c.1260
I K V T T S Q D M L S I M E K L E | F F D p.420
. . . . . . g.17845
TTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCG c.1320
F S Y D L N L C G L T E D P D L Q V S A p.440
. . . . . . g.17905
ATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCC c.1380
M Q H Q T V L E L T E T G V E A A A A S p.460
. . . . . . g.17965
GCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTG c.1440
A I S V A R T L L V F E V Q Q P F L F V p.480
. . . . . . g.18025
CTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCC c.1500
L W D Q Q H K F P V F M G R V Y D P R A p.500
g.18028
TGA c.1503
X p.500
. . . . . . g.18088
gacctgcaggatcaggttagggcgagcgctacctctccagcctcagctctcagttgcagc c.*60
. . . . . . g.18148
cctgctgctgcctgcctggacttggcccctgccacctcctgcctcaggtgtccgctatcc c.*120
. . . . . . g.18208
accaaaagggctccctgagggtctgggcaagggacctgcttctattagcccttctccatg c.*180
. . . . . . g.18268
gccctgccatgctctccaaaccactttttgcagctttctctagttcaagttcaccagact c.*240
. . . g.18300
ctataaataaaacctgacagaccatgactttc c.*272
(downstream sequence)
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