(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001994.2 in the F13B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012065.1, covering F13B transcript NM_001994.2.
(upstream sequence)
. . . . g.5044
agtgcttagaattgttaaaatctttgtgaagcacaccactgaag c.-1
. . . . . . g.5104
ATGAGGTTGAAAAACCTGACTTTTATCATCATATTGATAATCTCAGGAGAACTCTATGCA c.60
M R L K N L T F I I I L I I S G E L Y A p.20
| 02 . . . . . . g.9266
GAAG | AGAAACCCTGTGGTTTTCCTCATGTGGAAAATGGAAGAATTGCCCAATATTACTAT c.120
E E | K P C G F P H V E N G R I A Q Y Y Y p.40
. . . . . . g.9326
ACTTTTAAAAGCTTTTACTTTCCAATGAGCATAGACAAAAAATTGTCATTTTTCTGCTTG c.180
T F K S F Y F P M S I D K K L S F F C L p.60
. . . . . . g.9386
GCTGGTTATACCACTGAAAGTGGAAGACAAGAAGAGCAAACCACGTGTACAACAGAAGGC c.240
A G Y T T E S G R Q E E Q T T C T T E G p.80
. . | 03 . . . . g.10333
TGGTCTCCAGAGCCAAGGTGCTTCA | AAAAATGCACTAAGCCTGACCTGAGTAATGGTTAC c.300
W S P E P R C F K | K C T K P D L S N G Y p.100
. . . . . . g.10393
ATCTCTGATGTAAAGTTATTGTATAAAATTCAAGAGAACATGCGTTATGGTTGCGCTTCA c.360
I S D V K L L Y K I Q E N M R Y G C A S p.120
. . . . . . g.10453
GGGTACAAAACCACTGGAGGGAAGGATGAAGAAGTGGTTCAATGTCTCTCTGATGGATGG c.420
G Y K T T G G K D E E V V Q C L S D G W p.140
. . . | 04 . . . g.11221
TCTTCTCAACCAACCTGTAGGAAAGAACATG | AAACATGTTTGGCTCCTGAATTATATAAT c.480
S S Q P T C R K E H E | T C L A P E L Y N p.160
. . . . . . g.11281
GGAAATTATTCCACAACACAGAAAACATTCAAAGTGAAGGACAAAGTACAATACGAATGT c.540
G N Y S T T Q K T F K V K D K V Q Y E C p.180
. . . . . . g.11341
GCTACTGGCTACTACACAGCTGGAGGAAAGAAGACAGAGGAGGTAGAATGTCTCACATAC c.600
A T G Y Y T A G G K K T E E V E C L T Y p.200
. . | 05 . . . g.11757
GGATGGTCTCTCACACCAAAATGTACCA | AATTAAAGTGCTCTTCTTTAAGATTAATTGAA c.660
G W S L T P K C T K | L K C S S L R L I E p.220
. . . . . . g.11817
AATGGTTATTTTCATCCTGTAAAGCAAACCTATGAAGAAGGAGATGTCGTTCAGTTTTTC c.720
N G Y F H P V K Q T Y E E G D V V Q F F p.240
. . . . . . g.11877
TGTCATGAAAATTATTATCTAAGTGGATCTGATTTAATTCAATGCTATAACTTTGGTTGG c.780
C H E N Y Y L S G S D L I Q C Y N F G W p.260
. . | 06 . . . . g.14837
TACCCAGAATCTCCTGTATGCGAAG | GAAGAAGAAACAGATGTCCTCCTCCACCTCTGCCC c.840
Y P E S P V C E G | R R N R C P P P P L P p.280
. . . . . . g.14897
ATAAACTCCAAAATTCAAACACATTCAACAACTTATCGTCATGGAGAAATAGTTCATATA c.900
I N S K I Q T H S T T Y R H G E I V H I p.300
. . . . . . g.14957
GAATGTGAACTTAATTTTGAGATCCATGGGTCAGCAGAAATACGTTGTGAAGATGGAAAA c.960
E C E L N F E I H G S A E I R C E D G K p.320
. . | 07 . . . . g.15104
TGGACAGAACCTCCAAAATGCATTG | AAGGACAGGAGAAGGTAGCCTGTGAGGAACCACCC c.1020
W T E P P K C I E | G Q E K V A C E E P P p.340
. . . . . . g.15164
TTCATTGAAAATGGTGCAGCAAATTTACACTCTAAGATTTATTACAATGGGGATAAAGTG c.1080
F I E N G A A N L H S K I Y Y N G D K V p.360
. . . . . . g.15224
ACATATGCATGTAAAAGCGGCTACCTTCTCCATGGATCGAATGAGATAACTTGTAATCGT c.1140
T Y A C K S G Y L L H G S N E I T C N R p.380
. . . | 08 . . . g.16399
GGAAAATGGACACTTCCTCCTGAGTGTGTTG | AAAATAATGAGAATTGTAAGCATCCTCCT c.1200
G K W T L P P E C V E | N N E N C K H P P p.400
. . . . . . g.16459
GTTGTAATGAATGGGGCTGTTGCAGACGGGATATTGGCAAGCTATGCAACAGGATCCTCA c.1260
V V M N G A V A D G I L A S Y A T G S S p.420
. . . . . . g.16519
GTGGAATATAGATGCAATGAATATTACTTACTGAGGGGATCAAAAATATCTCGTTGCGAA c.1320
V E Y R C N E Y Y L L R G S K I S R C E p.440
. . . | 09 . . . g.19459
CAAGGAAAATGGTCATCCCCACCTGTTTGCTTGG | AACCATGTACTGTTAATGTGGATTAC c.1380
Q G K W S S P P V C L E | P C T V N V D Y p.460
. . . . . . g.19519
ATGAACAGAAATAACATAGAAATGAAGTGGAAATATGAAGGGAAAGTCTTACATGGAGAT c.1440
M N R N N I E M K W K Y E G K V L H G D p.480
. . . . . . g.19579
TTAATAGATTTTGTATGTAAACAGGGATATGACTTATCTCCATTAACCCCATTGTCTGAA c.1500
L I D F V C K Q G Y D L S P L T P L S E p.500
. . . . . | 10 . g.21393
TTATCTGTGCAGTGCAACAGAGGAGAAGTGAAATATCCTTTATGTACTAGAAAAG | AATCT c.1560
L S V Q C N R G E V K Y P L C T R K E | S p.520
. . . . . . g.21453
AAAGGAATGTGCACATCTCCTCCTCTTATTAAACATGGAGTCATTATTAGTTCAACAGTA c.1620
K G M C T S P P L I K H G V I I S S T V p.540
. . . . . . g.21513
GACACCTATGAAAATGGCTCTTCAGTAGAATACAGATGTTTTGATCACCATTTCCTAGAA c.1680
D T Y E N G S S V E Y R C F D H H F L E p.560
. . . . . | 11 g.31534
GGATCTAGGGAGGCCTATTGTTTAGATGGAATGTGGACTACACCACCATTGTGTTTAG | AG c.1740
G S R E A Y C L D G M W T T P P L C L E | p.580
. . . . . . g.31594
CCATGCACATTATCTTTTACTGAAATGGAAAAGAATAATTTACTTCTGAAATGGGATTTT c.1800
P C T L S F T E M E K N N L L L K W D F p.600
. . . . . . g.31654
GACAATAGACCACACATTTTGCATGGTGAATATATTGAGTTTATTTGTAGAGGAGATACT c.1860
D N R P H I L H G E Y I E F I C R G D T p.620
. . . . . . g.31714
TATCCAGCTGAATTATATATTACTGGATCTATACTTAGAATGCAATGTGACAGAGGGCAG c.1920
Y P A E L Y I T G S I L R M Q C D R G Q p.640
. . . | 12 . . . g.32884
TTAAAATATCCAAGATGTATTCCAAGACAAAG | CACTCTGTCTTATCAAGAACCCTTAAGA c.1980
L K Y P R C I P R Q S | T L S Y Q E P L R p.660
g.32890
ACATAG c.1986
T X p.661
. . . . . . g.32950
aaatgaatggcagaaagaggagtcatatttcaatacatcatgaaattccttataaaatat c.*60
. . . . . . g.33010
aattttgaggaaataagttaaaaacttcggagtttttccttgcttaaatatttgaatcta c.*120
. . . . . . g.33070
aattatttgtgctgaacatttcgttatttataaatgaaaaccaataaatgtctaattttt c.*180
g.33077
agtttgt c.*187
(downstream sequence)
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