(used for variant description)
(last modified December 5, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000505.3 in the F12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering F12 transcript NM_000505.3.
(upstream sequence)
. . . . g.5049
ctattgatctggactcctggataggcagctggaccaacggacggatgcc c.-1
. . . . . | 02. g.5476
ATGAGGGCTCTGCTGCTCCTGGGGTTCCTGCTGGTGAGCTTGGAGTCAACACTTTCG | ATT c.60
M R A L L L L G F L L V S L E S T L S | I p.20
. . . . . | 03 . g.8520
CCACCTTGGGAAGCCCCCAAGGAGCATAAGTACAAAGCTGAAGAGCACACAGTCG | TTCTC c.120
P P W E A P K E H K Y K A E E H T V V | L p.40
. . . . . . g.8580
ACTGTCACCGGGGAGCCCTGCCACTTCCCCTTCCAGTACCACCGGCAGCTGTACCACAAA c.180
T V T G E P C H F P F Q Y H R Q L Y H K p.60
. . . | 04 . . . g.8796
TGTACCCACAAGGGCCGGCCAGGCCCTCAGCCCTG | GTGTGCTACCACCCCCAACTTTGAT c.240
C T H K G R P G P Q P W | C A T T P N F D p.80
. . . . | 05 . . g.9157
CAGGACCAGCGATGGGGATACTGTTTGGAGCCCAAGAAAGTGAAAG | ACCACTGCAGCAAA c.300
Q D Q R W G Y C L E P K K V K D | H C S K p.100
. . . . . . g.9217
CACAGCCCCTGCCAGAAAGGAGGGACCTGTGTGAACATGCCAAGCGGCCCCCACTGTCTC c.360
H S P C Q K G G T C V N M P S G P H C L p.120
. . . | 06. . . g.9414
TGTCCACAACACCTCACTGGAAACCACTGCCAGAAAG | AGAAGTGCTTTGAGCCTCAGCTT c.420
C P Q H L T G N H C Q K E | K C F E P Q L p.140
. . . . . . g.9474
CTCCGGTTTTTCCACAAGAATGAGATATGGTATAGAACTGAGCAAGCAGCTGTGGCCAGA c.480
L R F F H K N E I W Y R T E Q A A V A R p.160
. . . . | 07 . g.9673
TGCCAGTGCAAGGGTCCTGATGCCCACTGCCAGCGGCTGGCCAGCCAGG | CCTGCCGCACC c.540
C Q C K G P D A H C Q R L A S Q A | C R T p.180
. . . . . . g.9733
AACCCGTGCCTCCATGGGGGTCGCTGCCTAGAGGTGGAGGGCCACCGCCTGTGCCACTGC c.600
N P C L H G G R C L E V E G H R L C H C p.200
. . . | 08 . . . g.9938
CCGGTGGGCTACACCGGAGCCTTCTGCGACGTGG | ACACCAAGGCAAGCTGCTATGATGGC c.660
P V G Y T G A F C D V D | T K A S C Y D G p.220
. . . . . . g.9998
CGCGGGCTCAGCTACCGCGGCCTGGCCAGGACCACGCTCTCGGGTGCGCCCTGTCAGCCG c.720
R G L S Y R G L A R T T L S G A P C Q P p.240
. . . . . . g.10058
TGGGCCTCGGAGGCCACCTACCGGAACGTGACTGCCGAGCAAGCGCGGAACTGGGGACTG c.780
W A S E A T Y R N V T A E Q A R N W G L p.260
. . | 09 . . . . g.10203
GGCGGCCACGCCTTCTGCCG | GAACCCGGACAACGACATCCGCCCGTGGTGCTTCGTGCTG c.840
G G H A F C R | N P D N D I R P W C F V L p.280
. . . . . . g.10263
AACCGCGACCGGCTGAGCTGGGAGTACTGCGACCTGGCACAGTGCCAGACCCCAACCCAG c.900
N R D R L S W E Y C D L A Q C Q T P T Q p.300
. . . . . . g.10323
GCGGCGCCTCCGACCCCGGTGTCCCCTAGGCTTCATGTCCCACTCATGCCCGCGCAGCCG c.960
A A P P T P V S P R L H V P L M P A Q P p.320
. . . . . | 10 g.10488
GCACCGCCGAAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAG | CC c.1020
A P P K P Q P T T R T P P Q S Q T P G A | p.340
. . . . . . g.10548
TTGCCGGCGAAGCGGGAGCAGCCGCCTTCCCTGACCAGGAACGGCCCACTGAGCTGCGGG c.1080
L P A K R E Q P P S L T R N G P L S C G p.360
. . . . . . g.10608
CAGCGGCTCCGCAAGAGTCTGTCTTCGATGACCCGCGTCGTTGGCGGGCTGGTGGCGCTA c.1140
Q R L R K S L S S M T R V V G G L V A L p.380
. . . . . . g.10668
CGCGGGGCGCACCCCTACATCGCCGCGCTGTACTGGGGCCACAGTTTCTGCGCCGGCAGC c.1200
R G A H P Y I A A L Y W G H S F C A G S p.400
. . . . . | 11 . g.10969
CTCATCGCCCCCTGCTGGGTGCTGACGGCCGCTCACTGCCTGCAGGACCG | GCCCGCACCC c.1260
L I A P C W V L T A A H C L Q D R | P A P p.420
. . . . . . g.11029
GAGGATCTGACGGTGGTGCTCGGCCAGGAACGCCGTAACCACAGCTGTGAGCCGTGCCAG c.1320
E D L T V V L G Q E R R N H S C E P C Q p.440
. . . . . . g.11089
ACGTTGGCCGTGCGCTCCTACCGCTTGCACGAGGCCTTCTCGCCCGTCAGCTACCAGCAC c.1380
T L A V R S Y R L H E A F S P V S Y Q H p.460
| 12. . . . . . g.11232
GACCTGG | CTCTGTTGCGCCTTCAGGAGGATGCGGACGGCAGCTGCGCGCTCCTGTCGCCT c.1440
D L A | L L R L Q E D A D G S C A L L S P p.480
. . . . . . g.11292
TACGTTCAGCCGGTGTGCCTGCCAAGCGGCGCCGCGCGACCCTCCGAGACCACGCTCTGC c.1500
Y V Q P V C L P S G A A R P S E T T L C p.500
. . . | 13 . . . g.11907
CAGGTGGCCGGCTGGGGCCACCAGTTCGAGG | GGGCGGAGGAATATGCCAGCTTCCTGCAG c.1560
Q V A G W G H Q F E G | A E E Y A S F L Q p.520
. . . . . . g.11967
GAGGCGCAGGTACCGTTCCTCTCCCTGGAGCGCTGCTCAGCCCCGGACGTGCACGGATCC c.1620
E A Q V P F L S L E R C S A P D V H G S p.540
. . . . . . g.12027
TCCATCCTCCCCGGCATGCTCTGCGCAGGGTTCCTCGAGGGCGGCACCGATGCGTGCCAG c.1680
S I L P G M L C A G F L E G G T D A C Q p.560
| 14 . . . . . . g.12177
| GGTGATTCCGGAGGCCCGCTGGTGTGTGAGGACCAAGCTGCAGAGCGCCGGCTCACCCTG c.1740
| G D S G G P L V C E D Q A A E R R L T L p.580
. . . . . . g.12237
CAAGGCATCATCAGCTGGGGATCGGGCTGTGGTGACCGCAACAAGCCAGGCGTCTACACC c.1800
Q G I I S W G S G C G D R N K P G V Y T p.600
. . . . g.12285
GATGTGGCCTACTACCTGGCCTGGATCCGGGAGCACACCGTTTCCTGA c.1848
D V A Y Y L A W I R E H T V S X p.615
. . . . . . g.12345
ttgctcagggactcatctttccctccttggtgattccgcagtgagagagtggctggggca c.*60
. . . . . . g.12405
tggaaggcaagattgtgtcccattcccccagtgcggccagctccgcgccaggatggcgca c.*120
. . . g.12439
ggaactcaataaagtgctttgaaaatgctgagaa c.*154
(downstream sequence)
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