(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the C4A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering C4A transcript NM_007293.2.
(upstream sequence)
. . . . . g.1051
agaaggtagcagacagacagacggatctaacctctcttggatcctccagcc c.-1
. . . . . . g.1111
ATGAGGCTGCTCTGGGGGCTGATCTGGGCATCCAGCTTCTTCACCTTATCTCTGCAGAAG c.60
M R L L W G L I W A S S F F T L S L Q K p.20
| 02 . . . . . . g.1303
CCCAG | GTTGCTCTTGTTCTCTCCTTCTGTGGTTCATCTGGGGGTCCCCCTATCGGTGGGG c.120
P R | L L L F S P S V V H L G V P L S V G p.40
. . . . . . g.1363
GTGCAGCTCCAGGATGTGCCCCGAGGACAGGTAGTGAAAGGATCAGTGTTCCTGAGAAAC c.180
V Q L Q D V P R G Q V V K G S V F L R N p.60
. . . . . . g.1423
CCATCTCGTAATAATGTCCCCTGCTCCCCAAAGGTGGACTTCACCCTTAGCTCAGAAAGA c.240
P S R N N V P C S P K V D F T L S S E R p.80
. . | 03 . . . . g.1697
GACTTCGCACTCCTCAGTCTCCAG | GTGCCCTTGAAAGATGCGAAGAGCTGTGGCCTCCAT c.300
D F A L L S L Q | V P L K D A K S C G L H p.100
. . . . . . g.1757
CAACTCCTCAGAGGCCCTGAGGTCCAGCTGGTGGCCCATTCGCCATGGCTAAAGGACTCT c.360
Q L L R G P E V Q L V A H S P W L K D S p.120
. . . . . . g.1817
CTGTCCAGAACGACAAACATCCAGGGTATCAACCTGCTCTTCTCCTCTCGCCGGGGGCAC c.420
L S R T T N I Q G I N L L F S S R R G H p.140
. . . . | 04 . . g.2086
CTCTTTTTGCAGACGGACCAGCCCATTTACAACCCTGGCCAGCGGG | TTCGGTACCGGGTC c.480
L F L Q T D Q P I Y N P G Q R V | R Y R V p.160
. . . . . | 05. g.2224
TTTGCTCTGGATCAGAAGATGCGCCCGAGCACTGACACCATCACAGTCATGGTGGAG | AAC c.540
F A L D Q K M R P S T D T I T V M V E | N p.180
. . . . . . g.2284
TCTCACGGCCTCCGCGTGCGGAAGAAGGAGGTGTACATGCCCTCGTCCATCTTCCAGGAT c.600
S H G L R V R K K E V Y M P S S I F Q D p.200
. . | 06 . . . . g.2562
GACTTTGTGATCCCAGACATCTCAGA | GCCAGGGACCTGGAAGATCTCAGCCCGATTCTCA c.660
D F V I P D I S E | P G T W K I S A R F S p.220
. . . . | 07 . g.2792
GATGGCCTGGAATCCAACAGCAGCACCCAGTTTGAGGTGAAGAAATATG | TCCTTCCCAAC c.720
D G L E S N S S T Q F E V K K Y V | L P N p.240
. . . . . . g.2852
TTTGAGGTGAAGATCACCCCTGGAAAGCCCTACATCCTGACGGTGCCAGGCCATCTTGAT c.780
F E V K I T P G K P Y I L T V P G H L D p.260
. . | 08 . . . . g.3050
GAAATGCAGTTAGACATCCAGGCCAG | GTACATCTATGGGAAGCCAGTGCAGGGGGTGGCA c.840
E M Q L D I Q A R | Y I Y G K P V Q G V A p.280
. . . . . . g.3110
TATGTGCGCTTTGGGCTCCTAGATGAGGATGGTAAGAAGACTTTCTTTCGGGGGCTGGAG c.900
Y V R F G L L D E D G K K T F F R G L E p.300
. | 09 . . . . . g.3267
AGTCAGACCAAG | CTGGTGAATGGACAGAGCCACATTTCCCTCTCAAAGGCAGAGTTCCAG c.960
S Q T K | L V N G Q S H I S L S K A E F Q p.320
. . . . . . g.3327
GACGCCCTGGAGAAGCTGAATATGGGCATTACTGACCTCCAGGGGCTGCGCCTCTACGTT c.1020
D A L E K L N M G I T D L Q G L R L Y V p.340
. . | 10 . . . . g.10170
GCTGCAGCCATCATTGAGTCTCCAG | GTGGGGAGATGGAGGAGGCAGAGCTCACATCCTGG c.1080
A A A I I E S P G | G E M E E A E L T S W p.360
. . . . . . g.10230
TATTTTGTGTCATCTCCCTTCTCCTTGGATCTTAGCAAGACCAAGCGACACCTTGTGCCT c.1140
Y F V S S P F S L D L S K T K R H L V P p.380
. . | 11 . . . . g.10389
GGGGCCCCCTTCCTGCTGCAG | GCCTTGGTCCGTGAGATGTCAGGCTCCCCAGCTTCTGGC c.1200
G A P F L L Q | A L V R E M S G S P A S G p.400
. . . . . . g.10449
ATTCCTGTCAAAGTTTCTGCCACGGTGTCTTCTCCTGGGTCTGTTCCTGAAGTCCAGGAC c.1260
I P V K V S A T V S S P G S V P E V Q D p.420
. . . . . . g.10509
ATTCAGCAAAACACAGACGGGAGCGGCCAAGTCAGCATTCCAATAATTATCCCTCAGACC c.1320
I Q Q N T D G S G Q V S I P I I I P Q T p.440
. . | 12 . . . . g.10714
ATCTCAGAGCTGCAGCTCTCA | GTATCTGCAGGCTCCCCACATCCAGCGATAGCCAGGCTC c.1380
I S E L Q L S | V S A G S P H P A I A R L p.460
. . . . . . g.10774
ACTGTGGCAGCCCCACCTTCAGGAGGCCCCGGGTTTCTGTCTATTGAGCGGCCGGATTCT c.1440
T V A A P P S G G P G F L S I E R P D S p.480
. . . . . . g.10834
CGACCTCCTCGTGTTGGGGACACTCTGAACCTGAACTTGCGAGCCGTGGGCAGTGGGGCC c.1500
R P P R V G D T L N L N L R A V G S G A p.500
. . | 13 . . . . g.11026
ACCTTTTCTCATTACTACTACATG | ATCCTATCCCGAGGGCAGATCGTGTTCATGAATCGA c.1560
T F S H Y Y Y M | I L S R G Q I V F M N R p.520
. . . . . . g.11086
GAGCCCAAGAGGACCCTGACCTCGGTCTCGGTGTTTGTGGACCATCACCTGGCACCCTCC c.1620
E P K R T L T S V S V F V D H H L A P S p.540
. . . . . . g.11146
TTCTACTTTGTGGCCTTCTACTACCATGGAGACCACCCAGTGGCCAACTCCCTGCGAGTG c.1680
F Y F V A F Y Y H G D H P V A N S L R V p.560
. . . | 14 . . . g.11359
GATGTCCAGGCTGGGGCCTGCGAGGGCAAG | CTGGAGCTCAGCGTGGACGGTGCCAAGCAG c.1740
D V Q A G A C E G K | L E L S V D G A K Q p.580
. . . . . . g.11419
TACCGGAACGGGGAGTCCGTGAAGCTCCACTTAGAAACCGACTCCCTAGCCCTGGTGGCG c.1800
Y R N G E S V K L H L E T D S L A L V A p.600
. . . . . . g.11479
CTGGGAGCCTTGGACACAGCTCTGTATGCTGCAGGCAGCAAGTCCCACAAGCCCCTCAAC c.1860
L G A L D T A L Y A A G S K S H K P L N p.620
| 15 . . . . . g.11790
ATGGGCAAG | GTCTTTGAAGCTATGAACAGCTATGACCTCGGCTGTGGTCCTGGGGGTGGG c.1920
M G K | V F E A M N S Y D L G C G P G G G p.640
. . . . . . g.11850
GACAGTGCCCTTCAGGTGTTCCAGGCAGCGGGCCTGGCCTTTTCTGATGGAGACCAGTGG c.1980
D S A L Q V F Q A A G L A F S D G D Q W p.660
. | 16 . . . . . g.12077
ACCTTATCCAGAAAGA | GACTAAGCTGTCCCAAGGAGAAGACAACCCGGAAAAAGAGAAAC c.2040
T L S R K R | L S C P K E K T T R K K R N p.680
. . . | 17 . . . g.12397
GTGAACTTCCAAAAGGCGATTAATGAGAAAT | TGGGTCAGTATGCTTCCCCGACAGCCAAG c.2100
V N F Q K A I N E K L | G Q Y A S P T A K p.700
. . . . . . g.12457
CGCTGCTGCCAGGATGGGGTGACACGTCTGCCCATGATGCGTTCCTGCGAGCAGCGGGCA c.2160
R C C Q D G V T R L P M M R S C E Q R A p.720
. . . . . . g.12517
GCCCGCGTGCAGCAGCCGGACTGCCGGGAGCCCTTCCTGTCCTGCTGCCAATTTGCTGAG c.2220
A R V Q Q P D C R E P F L S C C Q F A E p.740
. . . . | 18 . g.12668
AGTCTGCGCAAGAAGAGCAGGGACAAGGGCCAGGCGGGCCTCCAACGAG | CCCTGGAGATC c.2280
S L R K K S R D K G Q A G L Q R A | L E I p.760
. . . . . . g.12728
CTGCAGGAGGAGGACCTGATTGATGAGGATGACATTCCCGTGCGCAGCTTCTTCCCAGAG c.2340
L Q E E D L I D E D D I P V R S F F P E p.780
. . . . | 19 . . g.12878
AACTGGCTCTGGAGAGTGGAAACAGTGGACCGCTTTCAAAT | ATTGACACTGTGGCTCCCC c.2400
N W L W R V E T V D R F Q I | L T L W L P p.800
. . . . . | 20 . g.13196
GACTCTCTGACCACGTGGGAGATCCATGGCCTGAGCCTGTCCAAAACCAAAG | GCCTATGT c.2460
D S L T T W E I H G L S L S K T K G | L C p.820
. . . . . . g.13256
GTGGCCACCCCAGTCCAGCTCCGGGTGTTCCGCGAGTTCCACCTGCACCTCCGCCTGCCC c.2520
V A T P V Q L R V F R E F H L H L R L P p.840
. . . . . . g.13316
ATGTCTGTCCGCCGCTTTGAGCAGCTGGAGCTGCGGCCTGTCCTCTATAACTACCTGGAT c.2580
M S V R R F E Q L E L R P V L Y N Y L D p.860
. | 21 . . . . . g.13489
AAAAACCTGACT | GTGAGCGTCCACGTGTCCCCAGTGGAGGGGCTGTGCCTGGCTGGGGGC c.2640
K N L T | V S V H V S P V E G L C L A G G p.880
. . . . . . g.13549
GGAGGGCTGGCCCAGCAGGTGCTGGTGCCTGCGGGCTCTGCCCGGCCTGTTGCCTTCTCT c.2700
G G L A Q Q V L V P A G S A R P V A F S p.900
. . . . . . g.13609
GTGGTGCCCACGGCAGCCGCCGCTGTGTCTCTGAAGGTGGTGGCTCGAGGGTCCTTCGAA c.2760
V V P T A A A A V S L K V V A R G S F E p.920
. . . . | 22 . . g.13913
TTCCCTGTGGGAGATGCGGTGTCCAAGGTTCTGCAGATTGAG | AAGGAAGGGGCCATCCAT c.2820
F P V G D A V S K V L Q I E | K E G A I H p.940
. . . | 23 . . . g.14074
AGAGAGGAGCTGGTCTATGAACTCAACCCCTTGG | ACCACCGAGGCCGGACCTTGGAAATA c.2880
R E E L V Y E L N P L D | H R G R T L E I p.960
. . . . . . g.14134
CCTGGCAACTCTGATCCCAATATGATCCCTGATGGGGACTTTAACAGCTACGTCAGGGTT c.2940
P G N S D P N M I P D G D F N S Y V R V p.980
| 24 . . . . . . g.14329
ACAG | CCTCAGATCCATTGGACACTTTAGGCTCTGAGGGGGCCTTGTCACCAGGAGGCGTG c.3000
T A | S D P L D T L G S E G A L S P G G V p.1000
. . . . . . g.14389
GCCTCCCTCTTGAGGCTTCCTCGAGGCTGTGGGGAGCAAACCATGATCTACTTGGCTCCG c.3060
A S L L R L P R G C G E Q T M I Y L A P p.1020
. . . . . . g.14449
ACACTGGCTGCTTCCCGCTACCTGGACAAGACAGAGCAGTGGAGCACACTGCCTCCCGAG c.3120
T L A A S R Y L D K T E Q W S T L P P E p.1040
. . . | 25 . . . g.14688
ACCAAGGACCACGCCGTGGATCTGATCCAGAAAG | GCTACATGCGGATCCAGCAGTTTCGG c.3180
T K D H A V D L I Q K G | Y M R I Q Q F R p.1060
. . . . . | 26 . g.14908
AAGGCGGATGGTTCCTATGCGGCTTGGTTGTCACGGGACAGCAGCACCTG | GCTCACAGCC c.3240
K A D G S Y A A W L S R D S S T W | L T A p.1080
. . . . . . g.14968
TTTGTGTTGAAGGTCCTGAGTTTGGCCCAGGAGCAGGTAGGAGGCTCGCCTGAGAAACTG c.3300
F V L K V L S L A Q E Q V G G S P E K L p.1100
. . . . . . g.15028
CAGGAGACATCTAACTGGCTTCTGTCCCAGCAGCAGGCTGACGGCTCGTTCCAGGACCCC c.3360
Q E T S N W L L S Q Q Q A D G S F Q D P p.1120
. . | 27. . . . g.15183
TGTCCAGTGTTAGACAGGAGCATGCAG | GGGGGTTTGGTGGGCAATGATGAGACTGTGGCA c.3420
C P V L D R S M Q | G G L V G N D E T V A p.1140
. . . . . . g.15243
CTCACAGCCTTTGTGACCATCGCCCTTCATCATGGGCTGGCCGTCTTCCAGGATGAGGGT c.3480
L T A F V T I A L H H G L A V F Q D E G p.1160
. . | 28 . . . . g.15408
GCAGAGCCATTGAAGCAGAGAGTG | GAAGCCTCCATCTCAAAGGCAAACTCATTTTTGGGG c.3540
A E P L K Q R V | E A S I S K A N S F L G p.1180
. . . . . . g.15468
GAGAAAGCAAGTGCTGGGCTCCTGGGTGCCCACGCAGCTGCCATCACGGCCTATGCCCTG c.3600
E K A S A G L L G A H A A A I T A Y A L p.1200
. . . . . . g.15528
ACACTGACCAAGGCGCCTGTGGACCTGCTCGGTGTTGCCCACAACAACCTCATGGCAATG c.3660
T L T K A P V D L L G V A H N N L M A M p.1220
. | 29 . . . . . g.15816
GCCCAGGAGACTGGAG | ATAACCTGTACTGGGGCTCAGTCACTGGTTCTCAGAGCAATGCC c.3720
A Q E T G D | N L Y W G S V T G S Q S N A p.1240
. . . . . . g.15876
GTGTCGCCCACCCCGGCTCCTCGCAACCCATCCGACCCCATGCCCCAGGCCCCAGCCCTG c.3780
V S P T P A P R N P S D P M P Q A P A L p.1260
. . . . . . g.15936
TGGATTGAAACCACAGCCTACGCCCTGCTGCACCTCCTGCTTCACGAGGGCAAAGCAGAG c.3840
W I E T T A Y A L L H L L L H E G K A E p.1280
. . . . . . g.15996
ATGGCAGACCAGGCTTCGGCCTGGCTCACCCGTCAGGGCAGCTTCCAAGGGGGATTCCGC c.3900
M A D Q A S A W L T R Q G S F Q G G F R p.1300
| 30 . . . . . g.16138
AGTACCCAA | GACACGGTGATTGCCCTGGATGCCCTGTCTGCCTACTGGATTGCCTCCCAC c.3960
S T Q | D T V I A L D A L S A Y W I A S H p.1320
. . . . . . g.16198
ACCACTGAGGAGAGGGGTCTCAATGTGACTCTCAGCTCCACAGGCCGGAATGGGTTCAAG c.4020
T T E E R G L N V T L S S T G R N G F K p.1340
. . . . . | 31. g.16651
TCCCACGCGCTGCAGCTGAACAACCGCCAGATTCGCGGCCTGGAGGAGGAGCTGCAG | TTT c.4080
S H A L Q L N N R Q I R G L E E E L Q | F p.1360
. . . . . | 32. g.17760
TCCTTGGGCAGCAAGATCAATGTGAAGGTGGGAGGAAACAGCAAAGGAACCCTGAAG | GTC c.4140
S L G S K I N V K V G G N S K G T L K | V p.1380
. . . . . . g.17820
CTTCGTACCTACAATGTCCTGGACATGAAGAACACGACCTGCCAGGACCTACAGATAGAA c.4200
L R T Y N V L D M K N T T C Q D L Q I E p.1400
. . . | 33 . . . g.17977
GTGACAGTCAAAGGCCACGTCGAGTACACGA | TGGAAGCAAACGAGGACTATGAGGACTAT c.4260
V T V K G H V E Y T M | E A N E D Y E D Y p.1420
. . . . . . g.18037
GAGTACGATGAGCTTCCAGCCAAGGATGACCCAGATGCCCCTCTGCAGCCCGTGACACCC c.4320
E Y D E L P A K D D P D A P L Q P V T P p.1440
. . . . . . g.18097
CTGCAGCTGTTTGAGGGTCGGAGGAACCGCCGCAGGAGGGAGGCGCCCAAGGTGGTGGAG c.4380
L Q L F E G R R N R R R R E A P K V V E p.1460
. . . | 34 . . g.18271
GAGCAGGAGTCCAGGGTGCACTACACCGTGTGCATCTG | GCGGAACGGCAAGGTGGGGCTG c.4440
E Q E S R V H Y T V C I W | R N G K V G L p.1480
. . . . . . g.18331
TCTGGCATGGCCATCGCGGACGTCACCCTCCTGAGTGGATTCCACGCCCTGCGTGCTGAC c.4500
S G M A I A D V T L L S G F H A L R A D p.1500
| 35 . . . . . g.18481
CTGGAGAAG | CTGACCTCCCTCTCTGACCGTTACGTGAGTCACTTTGAGACCGAGGGGCCC c.4560
L E K | L T S L S D R Y V S H F E T E G P p.1520
. . | 36 . . . . g.20032
CACGTCCTGCTGTATTTTGACTCG | GTCCCCACCTCCCGGGAGTGCGTGGGCTTTGAGGCT c.4620
H V L L Y F D S | V P T S R E C V G F E A p.1540
. . . . . . g.20092
GTGCAGGAAGTGCCGGTGGGGCTGGTGCAGCCGGCCAGCGCAACCCTGTACGACTACTAC c.4680
V Q E V P V G L V Q P A S A T L Y D Y Y p.1560
| 37. . . . . . g.20317
AACCCCG | AGCGCAGATGTTCTGTGTTTTACGGGGCACCAAGTAAGAGCAGACTCTTGGCC c.4740
N P E | R R C S V F Y G A P S K S R L L A p.1580
. . . | 38. . . g.20462
ACCTTGTGTTCTGCTGAAGTCTGCCAGTGTGCTGAGG | GGAAGTGCCCTCGCCAGCGTCGC c.4800
T L C S A E V C Q C A E G | K C P R Q R R p.1600
. . . . . . g.20522
GCCCTGGAGCGGGGTCTGCAGGACGAGGATGGCTACAGGATGAAGTTTGCCTGCTACTAC c.4860
A L E R G L Q D E D G Y R M K F A C Y Y p.1620
. | 39 . . . . . g.20764
CCCCGTGTGGAGTACG | GCTTCCAGGTTAAGGTTCTCCGAGAAGACAGCAGAGCTGCTTTC c.4920
P R V E Y G | F Q V K V L R E D S R A A F p.1640
. . . . | 40 . . g.21086
CGCCTCTTTGAGACCAAGATCACCCAAGTCCTGCACTTCA | CCAAGGATGTCAAGGCCGCT c.4980
R L F E T K I T Q V L H F T | K D V K A A p.1660
. . . . . . g.21146
GCTAATCAGATGCGCAACTTCCTGGTTCGAGCCTCCTGCCGCCTTCGCTTGGAACCTGGG c.5040
A N Q M R N F L V R A S C R L R L E P G p.1680
. . . . . | 41 . g.21349
AAAGAATATTTGATCATGGGTCTGGATGGGGCCACCTATGACCTCGAGGGACA | CCCCCAG c.5100
K E Y L I M G L D G A T Y D L E G H | P Q p.1700
. . . . . . g.21409
TACCTGCTGGACTCGAATAGCTGGATCGAGGAGATGCCCTCTGAACGCCTGTGCCGGAGC c.5160
Y L L D S N S W I E E M P S E R L C R S p.1720
. . . . . . g.21469
ACCCGCCAGCGGGCAGCCTGTGCCCAGCTCAACGACTTCCTCCAGGAGTATGGCACTCAG c.5220
T R Q R A A C A Q L N D F L Q E Y G T Q p.1740
. g.21484
GGGTGCCAGGTGTGA c.5235
G C Q V X p.1744
. . . . . . g.21544
gggctgccctcccacctccgctgggaggaacctgaacctgggaaccatgaagctggaagc c.*60
. . . . . . g.21604
actgctgtgtccgctttcatgaacacagcctgggaccagggcatattaaaggcttttggc c.*120
. . g.21624
agcaaagtgtcagtgttggc c.*140
(downstream sequence)
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