(used for variant description)
(last modified August 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006113.4 in the VAV3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering VAV3 transcript NM_006113.4.
(upstream sequence)
. . . . . g.5054
cggccgcatccttgccgcccgccccggcccagccgcgtcccggagccgtcgggc c.-1
. . . . . . g.5114
ATGGAGCCGTGGAAGCAGTGCGCGCAGTGGCTCATCCATTGCAAGGTGCTGCCCACCAAC c.60
M E P W K Q C A Q W L I H C K V L P T N p.20
. . . . . . g.5174
CACCGGGTGACCTGGGACTCGGCTCAGGTGTTCGACCTTGCGCAGACCCTCCGCGATGGA c.120
H R V T W D S A Q V F D L A Q T L R D G p.40
. . . . . . g.5234
GTCCTGCTCTGCCAGCTGCTTAACAACCTCCGGGCGCACTCCATCAACCTGAAGGAGATC c.180
V L L C Q L L N N L R A H S I N L K E I p.60
. . | 02 . . . . g.94942
AACCTGAGGCCGCAGATGTCCCAG | TTTCTCTGTTTGAAGAACATAAGGACATTTCTCACG c.240
N L R P Q M S Q | F L C L K N I R T F L T p.80
. . . . . . g.95002
GCCTGTTGTGAGACGTTTGGAATGAGGAAAAGTGAACTTTTCGAGGCATTTGACTTGTTT c.300
A C C E T F G M R K S E L F E A F D L F p.100
. . | 03 . . . . g.190470
GATGTTCGTGACTTTGGAAAG | GTTATAGAAACATTATCACGACTTTCTCGAACACCTATA c.360
D V R D F G K | V I E T L S R L S R T P I p.120
. . | 04 . . . . g.192667
GCATTGGCCACAGGAATCAG | GCCCTTCCCAACAGAAGAAAGCATTAATGATGAAGACATC c.420
A L A T G I R | P F P T E E S I N D E D I p.140
. . | 05 . . . . g.197114
TACAAAGGCCTTCCTGATTTAATAGA | TGAAACCCTTGTGGAAGATGAAGAAGATCTCTAT c.480
Y K G L P D L I D | E T L V E D E E D L Y p.160
. . . . . . g.197174
GACTGTGTTTATGGGGAAGATGAAGGTGGAGAAGTCTATGAGGACTTAATGAAGGCAGAG c.540
D C V Y G E D E G G E V Y E D L M K A E p.180
. | 06 . . . . . g.199240
GAAGCACATCAGCCC | AAATGTCCAGAAAATGATATACGAAGTTGTTGTCTAGCAGAAATT c.600
E A H Q P | K C P E N D I R S C C L A E I p.200
. . . . | 07 . g.201426
AAGCAGACAGAAGAAAAATATACAGAAACTTTGGAGTCAATAGAAAAG | TATTTCATGGCA c.660
K Q T E E K Y T E T L E S I E K | Y F M A p.220
. . . . . | 08. g.203376
CCACTAAAAAGATTTCTGACAGCAGCAGAATTTGATTCAGTATTCATCAACATTCCT | GAA c.720
P L K R F L T A A E F D S V F I N I P | E p.240
. . . . . . g.203436
CTTGTAAAACTTCATCGGAACCTAATGCAAGAGATTCATGATTCCATTGTAAATAAAAAT c.780
L V K L H R N L M Q E I H D S I V N K N p.260
. . . . | 09 . . g.204767
GACCAGAACTTGTACCAAGTTTTTATTAACTACAAGGAAAG | ATTGGTTATTTACGGGCAG c.840
D Q N L Y Q V F I N Y K E R | L V I Y G Q p.280
. . . . . . g.204827
TACTGCAGTGGAGTGGAGTCAGCCATCTCTAGTTTAGACTACATTTCTAAGACAAAAGAA c.900
Y C S G V E S A I S S L D Y I S K T K E p.300
. . | 10 . . . . g.209083
GATGTCAAACTGAAATTAGAG | GAATGTTCCAAAAGAGCAAATAATGGGAAATTTACTCTT c.960
D V K L K L E | E C S K R A N N G K F T L p.320
. . . . . | 11. g.212597
CGAGACTTGCTTGTGGTTCCTATGCAACGTGTTTTAAAGTACCACCTTCTCCTCCAG | GAA c.1020
R D L L V V P M Q R V L K Y H L L L Q | E p.340
. . . . . . g.212657
CTGGTCAAACATACCACTGATCCGACTGAGAAGGCAAATCTGAAACTGGCTCTTGATGCC c.1080
L V K H T T D P T E K A N L K L A L D A p.360
| 12 . . . . . . g.214464
ATGAAG | GACTTGGCACAATATGTGAATGAAGTGAAAAGAGATAATGAGACCCTTCGTGAA c.1140
M K | D L A Q Y V N E V K R D N E T L R E p.380
. . . | 13 . . . g.218748
ATTAAACAGTTTCAGCTATCTATAGAGAATTTG | AACCAACCAGTTTTGCTTTTTGGACGA c.1200
I K Q F Q L S I E N L | N Q P V L L F G R p.400
. . . . . | 14 g.220330
CCTCAGGGAGATGGTGAAATTCGAATAACCACTCTAGACAAGCATACCAAACAAGAAAG | G c.1260
P Q G D G E I R I T T L D K H T K Q E R | p.420
. . . . . . g.220390
CATATCTTCTTATTTGATTTGGCAGTGATCGTATGTAAGAGAAAAGGTGATAACTATGAA c.1320
H I F L F D L A V I V C K R K G D N Y E p.440
. . . . . . g.220450
ATGAAGGAAATAATAGATCTTCAGCAGTACAAGATAGCCAATAATCCTACAACCGATAAA c.1380
M K E I I D L Q Q Y K I A N N P T T D K p.460
. | 15 . . . . . g.220894
GAAAACAAAAAG | TGGTCTTATGGCTTCTACCTCATCCATACCCAAGGACAAAATGGGTTA c.1440
E N K K | W S Y G F Y L I H T Q G Q N G L p.480
. . . . . . g.220954
GAATTTTATTGCAAAACAAAAGATTTAAAGAAGAAATGGCTAGAACAGTTTGAAATGGCT c.1500
E F Y C K T K D L K K K W L E Q F E M A p.500
| 16 . . . . . . g.264920
TT | GTCTAACATAAGACCAGACTATGCAGACTCCAATTTCCACGACTTCAAGATGCATACC c.1560
L | S N I R P D Y A D S N F H D F K M H T p.520
. . . . | 17 . . g.265289
TTCACTCGAGTCACATCCTGCAAAGTCTGCCAGATGCTCCTGAG | GGGAACATTTTATCAA c.1620
F T R V T S C K V C Q M L L R | G T F Y Q p.540
. . . . . . g.265349
GGCTATTTATGTTTTAAGTGTGGAGCGAGAGCACACAAAGAATGTTTGGGAAGAGTAGAC c.1680
G Y L C F K C G A R A H K E C L G R V D p.560
. . | 18 . . . | 19 . g.286399
AATTGTGGCAGAGTTAATTCTGGTG | AACAAGGGACACTCAAACTACCAGAG | AAACGGACC c.1740
N C G R V N S G E | Q G T L K L P E | K R T p.580
. . . | 20. . . g.327191
AATGGACTGCGAAGAACTCCTAAACAGGTGGATCCAG | GTTTACCAAAGATGCAGGTCATT c.1800
N G L R R T P K Q V D P G | L P K M Q V I p.600
. . . . . . g.327251
AGGAACTATTCTGGAACACCACCCCCAGCTCTGCATGAAGGACCCCCTTTACAGCTCCAG c.1860
R N Y S G T P P P A L H E G P P L Q L Q p.620
. . . . . | 21 . g.352297
GCCGGGGATACCGTTGAACTTCTGAAAGGAGATGCACACAGTCTGTTTTGGCAG | GGCAGA c.1920
A G D T V E L L K G D A H S L F W Q | G R p.640
. . . . . . g.352357
AATTTAGCATCTGGAGAGGTTGGATTTTTTCCAAGTGATGCAGTCAAGCCTTGCCCATGT c.1980
N L A S G E V G F F P S D A V K P C P C p.660
| 22 . . . | 23 . . . g.366785
| GTGCCCAAACCAGTAGATTATTCTTGCCAACCCTG | GTATGCTGGAGCAATGGAAAGATTG c.2040
| V P K P V D Y S C Q P W | Y A G A M E R L p.680
. . . . . . g.366845
CAAGCAGAGACCGAACTTATTAATAGGGTAAATAGTACTTACCTTGTGAGGCACAGGACC c.2100
Q A E T E L I N R V N S T Y L V R H R T p.700
. . . | 24 . . . g.367467
AAAGAGTCAGGAGAATATGCAATTAGCATTAA | GTACAATAATGAAGCAAAGCACATCAAG c.2160
K E S G E Y A I S I K | Y N N E A K H I K p.720
. . . . . . g.367527
ATTTTAACAAGAGATGGCTTTTTTCACATTGCAGAAAATAGAAAATTTAAAAGTTTAATG c.2220
I L T R D G F F H I A E N R K F K S L M p.740
| 25 . . . . . . g.373642
| GAACTTGTGGAGTACTACAAGCATCATTCTCTCAAGGAAGGGTTCAGAACCTTAGATACA c.2280
| E L V E Y Y K H H S L K E G F R T L D T p.760
. . . . . . g.373702
ACTCTGCAGTTTCCATACAAGGAGCCAGAACATTCAGCTGGACAGAGGGGTAATAGAGCA c.2340
T L Q F P Y K E P E H S A G Q R G N R A p.780
. | 26 . . . . . g.395775
GGCAACAGCT | TGTTAAGTCCAAAAGTGCTGGGCATTGCCATCGCTCGGTATGACTTCTGT c.2400
G N S L | L S P K V L G I A I A R Y D F C p.800
. . . . . . g.395835
GCAAGAGATATGAGAGAGTTGTCCTTGTTGAAAGGAGATGTGGTGAAGATTTACACAAAG c.2460
A R D M R E L S L L K G D V V K I Y T K p.820
. . . . | 27 . . g.396569
ATGAGTGCAAATGGCTGGTGGAGAGGAGAAGTAAATGGCAGG | GTGGGCTGGTTTCCATCC c.2520
M S A N G W W R G E V N G R | V G W F P S p.840
. . g.396593
ACATATGTGGAAGAGGATGAATAA c.2544
T Y V E E D E X p.847
. . . . . . g.396653
attcaaatcccgtgttgcaccctgcaccaaaaatttcagagaagggataaatagaagcct c.*60
. . . . . . g.396713
gcacagcatcgtgaattaactgaagtgtttaaaaagctgcatttctggctgttcaacatc c.*120
. . . . . . g.396773
ctccctccttagcccctcctaagtcttaatgctgagatttctaaagatgctggtactgac c.*180
. . . . . . g.396833
agattaatggcttgcctagagctgtgcaagaaacagcctgccagtctgtcattgtcaggg c.*240
. . . . . . g.396893
accagggcaaaaccaagagctgttcttcccagaagagccctgcaaacacattggttcgtg c.*300
. . . . . . g.396953
cttccctttacttcttctggtcagataccatgaatgccagtcatcagtaaatcttaatac c.*360
. . . . . . g.397013
acttttgctttattctcacatgccattcaccagattatttgatggtacaaagaagcagaa c.*420
. . . . . . g.397073
gtgtaattttccttttcccagcatgacgaaaaattggagttctgccatttgagcagctta c.*480
. . . . . . g.397133
ctggaaagatccagccttacttgtcttaaattgtccaacaaggtgactcattgcccggca c.*540
. . . . . . g.397193
aacacttttaccctcagatgttactcatgatattataaaatatgaggccagtgctcaggt c.*600
. . . . . . g.397253
ttgcatcataagtgagctatccctgaagggttttaattacttatttggtgtcctgattat c.*660
. . . . . . g.397313
atttgcaaacttctttataaaaggtgaaaaaagcacacaaaagagagggtgtcttcatat c.*720
. . . . . . g.397373
taaaccttcacaaccttcatgatttcataggattattttggaaatatagcacttgacttt c.*780
. . . . . . g.397433
atgaaaggatctgggctaggtatattaagggtagttgccaataacctgaagaagctggca c.*840
. . . . . . g.397493
ttgtttacagaaacagatcaagggctataatttatgtcattttatagcagcagtatctat c.*900
. . . . . . g.397553
taatacatgccttttcctcccatccacctcccccgcacacacacaaagatgacctgggac c.*960
. . . . . . g.397613
atgatttttttattcccacattttcttggagcacaaacaactttgttgaggattttggaa c.*1020
. . . . . . g.397673
ggaaagcacaactgggtcctttattcatttctgggacagaaagagggtcagtggactttt c.*1080
. . . . . . g.397733
gtgggcctccagcttctctcagagtctccccctctgcagcccatcctgggagtgtattaa c.*1140
. . . . . . g.397793
ctggagggaagatgggtcttgcagtacatttgttttgcccagccatcactcttttttgtg c.*1200
. . . . . . g.397853
aggagcctaaatacattcttcctggggtccagagtccccattcaaggcagtcaagttaag c.*1260
. . . . . . g.397913
acactaacttggccctttcctgatggaaatatttcctccatagcagaagttgtgttctga c.*1320
. . . . . . g.397973
caagactgagagagttacatgttgggaaaaaaaagaagcattaacttagtagaactgaac c.*1380
. . . . . . g.398033
caggagcattaagttctgaaattttgaatcatctctgaaatgaagcaggtgtagcctgcc c.*1440
. . . . . . g.398093
ctctcatcaatccgtctgggtgccagaactcaaggttcagtggacacatccccctgttag c.*1500
. . . . . . g.398153
agaccctcatgggctaggacttttcatctaggatagattcaagacctttacctcagaatt c.*1560
. . . . . . g.398213
atgtaaactgtgattgtgttttagaaaaattattatttgctaaaaccatttaagtctttg c.*1620
. . . . . . g.398273
tatatgtgtaaatgatcacaaaaatgtattttataaaatgttctgtacaataaagttaca c.*1680
. . . . . . g.398333
cctcaaagtgtactcttggaatggattctttcctgtaaagtcttatctgcgactctgtct c.*1740
. . . . . . g.398393
cgggaatgttttgtctgttgccgtcagccgaactttgttatggagggagcagcctcacac c.*1800
. . . . . . g.398453
aagcagaaacactcctgtggatggtattgtagcatgtattgtttattttagtcaatagac c.*1860
. . . . . . g.398513
cctctccttataaatggtgtttagtcttcctgttgcatttcatgggcctgggggtttcct c.*1920
. . . . . . g.398573
agcagaggatattggagcccctttttgtgacattaccaattacatctttgtccacgttta c.*1980
. . . . . . g.398633
atactttgttttggaaaatttaaatgctgcagatttgtgtagagttctaataccaaagac c.*2040
. . . . . . g.398693
agaagtaaatgttttccatatactttgtcttgcctgtatgcagccctcgtgtaatacggt c.*2100
. . . . . . g.398753
gaattagagtggtatttcactttgtattattttgtaaatatgtcaatataataaatagtg c.*2160
. g.398764
actaaattgat c.*2171
(downstream sequence)
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