(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the XK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering XK transcript NM_021083.2.
(upstream sequence)
. . g.1022
ctcgggcaacggccgccgccgc c.-61
. . . . . . g.1082
cacagccacacagccgccgccactgcgtccgtccccggtgagcgccgctgacgcgcggag c.-1
. . . . . . g.1142
ATGAAATTCCCGGCCTCGGTGCTGGCGTCCGTGTTCCTGTTCGTGGCCGAGACAACGGCG c.60
M K F P A S V L A S V F L F V A E T T A p.20
. . . . . . g.1202
GCGCTCAGCCTGAGCAGCACCTACCGCTCGGGCGGGGACCGCATGTGGCAGGCGCTGACG c.120
A L S L S S T Y R S G G D R M W Q A L T p.40
. . . . . . g.1262
TTGCTTTTCTCGCTACTGCCTTGCGCGCTCGTGCAGCTCACGCTTCTCTTCGTACACCGC c.180
L L F S L L P C A L V Q L T L L F V H R p.60
. . . . . . g.1322
GACCTCAGCCGCGACCGCCCGCTCGTACTGCTGCTGCACCTGCTGCAACTTGGGCCCCTT c.240
D L S R D R P L V L L L H L L Q L G P L p.80
| 02 . . . . . . g.9461
TTCAG | GTGTTTTGAAGTCTTCTGCATCTACTTTCAGTCAGGCAACAATGAAGAGCCTTAT c.300
F R | C F E V F C I Y F Q S G N N E E P Y p.100
. . . . . . g.9521
GTCAGTATCACCAAGAAGAGGCAAATGCCAAAAAATGGCCTCTCAGAGGAGATTGAGAAG c.360
V S I T K K R Q M P K N G L S E E I E K p.120
. . . . . . g.9581
GAGGTGGGCCAGGCAGAAGGCAAACTAATCACCCACCGATCAGCGTTCAGCCGGGCGTCG c.420
E V G Q A E G K L I T H R S A F S R A S p.140
. . . . . . g.9641
GTGATCCAGGCTTTCTTGGGCTCAGCCCCCCAGCTGACCCTACAGCTGTACATAAGTGTC c.480
V I Q A F L G S A P Q L T L Q L Y I S V p.160
. . | 03 . . . g.42788
ATGCAGCAGGACGTCACTGTTGGAAGAA | GTCTCCTCATGACCATATCCCTGTTGTCCATT c.540
M Q Q D V T V G R S | L L M T I S L L S I p.180
. . . . . . g.42848
GTGTATGGAGCCTTGCGCTGCAACATCCTAGCCATCAAAATCAAGTACGATGAGTATGAA c.600
V Y G A L R C N I L A I K I K Y D E Y E p.200
. . . . . . g.42908
GTCAAAGTGAAGCCTCTGGCCTATGTCTGTATCTTCCTGTGGAGGAGCTTTGAGATTGCC c.660
V K V K P L A Y V C I F L W R S F E I A p.220
. . . . . . g.42968
ACTCGAGTTGTAGTCCTGGTCCTCTTTACCTCCGTCCTGAAGACCTGGGTGGTGGTTATA c.720
T R V V V L V L F T S V L K T W V V V I p.240
. . . . . . g.43028
ATACTCATCAACTTCTTCAGTTTCTTCTTGTACCCCTGGATCCTCTTCTGGTGCAGTGGT c.780
I L I N F F S F F L Y P W I L F W C S G p.260
. . . . . . g.43088
TCCCCATTCCCTGAGAACATAGAGAAGGCCCTCAGTAGAGTGGGCACCACCATTGTACTA c.840
S P F P E N I E K A L S R V G T T I V L p.280
. . . . . . g.43148
TGCTTTCTAACTTTACTCTATACTGGTATCAACATGTTCTGCTGGTCTGCTGTACAGCTG c.900
C F L T L L Y T G I N M F C W S A V Q L p.300
. . . . . . g.43208
AAAATTGACAGCCCTGACCTCATCAGCAAGTCCCATAATTGGTACCAGCTACTGGTGTAT c.960
K I D S P D L I S K S H N W Y Q L L V Y p.320
. . . . . . g.43268
TACATGATAAGATTCATCGAGAATGCCATCCTCCTCCTCCTGTGGTATCTTTTCAAGACT c.1020
Y M I R F I E N A I L L L L W Y L F K T p.340
. . . . . . g.43328
GACATCTATATGTATGTGTGCGCACCTCTGTTGGTCCTGCAGCTGCTCATTGGGTACTGC c.1080
D I Y M Y V C A P L L V L Q L L I G Y C p.360
. . . . . . g.43388
ACAGCCATTCTCTTCATGCTTGTATTCTATCAGTTCTTCCACCCTTGCAAAAAGCTCTTT c.1140
T A I L F M L V F Y Q F F H P C K K L F p.380
. . . . . . g.43448
TCTTCCAGTGTTTCTGAAGGCTTTCAGAGGTGGCTCAGGTGTTTTTGCTGGGCCTGCAGG c.1200
S S S V S E G F Q R W L R C F C W A C R p.400
. . . . . . g.43508
CAGCAAAAACCCTGTGAGCCGATAGGAAAGGAAGATCTACAGTCATCCAGAGATAGAGAT c.1260
Q Q K P C E P I G K E D L Q S S R D R D p.420
. . . . . . g.43568
GAGACACCTTCTAGCAGTAAAACAAGTCCTGAGCCTGGTCAGTTCTTGAATGCTGAAGAT c.1320
E T P S S S K T S P E P G Q F L N A E D p.440
. g.43583
CTCTGCTCTGCTTAA c.1335
L C S A X p.444
. . . . . . g.43643
tgggacccaaggtctcagagcacaggcatattattttctgggtttgatactcgttattca c.*60
. . . . . . g.43703
tacaaataatgagccctacacagggaacaaggcaggaagttagctgttaactccttgtga c.*120
. . . . . . g.43763
gctgcttctctttatagagctcttgggtatgtagaactgtatgggaagaagccaggaaaa c.*180
. . . . . . g.43823
cctctgagtgttgaaggggcaacccaaggcatcacagttcacaggtaaccatgttgtgtt c.*240
. . . . . . g.43883
cttctaggcattactggccttttcactgacaagttacccctgaaatctgagttgtactgg c.*300
. . . . . . g.43943
ttagattcattaggttgaatgaggagaggggcttacctgttctctagttttccagactgc c.*360
. . . . . . g.44003
tggtttgggtaacctgaagttttatgatccctgaacatagttttcacccaagagctgtcc c.*420
. . . . . . g.44063
tggtgaccaaaaaagattactagggttttgccatcagcaacatcattcctgtcagagctt c.*480
. . . . . . g.44123
tcagggagggctgttcaagtttggtttttgaatagacagaggtttcattttcatctcatt c.*540
. . . . . . g.44183
agggcttttttgtacatagccaactgtagccaccctggcatgctgtctctaattgattca c.*600
. . . . . . g.44243
agggcctagatttggagactttgttccttagcatccatggatgcagaaatgagtgataaa c.*660
. . . . . . g.44303
tttggccatgaaagccctggaattttaggaaagttgtgattctttgatatgttgatgaaa c.*720
. . . . . . g.44363
ttctggatcaggaggggtgttaaaacatcaaaatgatggcgacttgtataagtagaattc c.*780
. . . . . . g.44423
ttaccatcttactcctgcctccccattccttgcctgtcaggaccattttagaagagttac c.*840
. . . . . . g.44483
cttggttaacttaagggttttttagaaaaccccacagaaatctctcacccagttcaggtg c.*900
. . . . . . g.44543
tatagggaattttcattttcattatttcaaggaatagagttttcctcactaccacttgta c.*960
. . . . . . g.44603
attagagattgacttcagaaactttttctaaattataaagacggaatgaccagaaaattt c.*1020
. . . . . . g.44663
ttgtctttcatggaatgcaatttgacttggcataattgtgagttaatttgataaagatct c.*1080
. . . . . . g.44723
ccagttgtatcctctgacaccctttaatgttctatataatttttcctttaatcggagacc c.*1140
. . . . . . g.44783
ctatttgtttcattaaagaggattgggtagcatatcctcaattatcttggaaaaatgcgt c.*1200
. . . . . . g.44843
agatctagtgccattatttctaccattaaaatcttgaaagcgaaatacttgaaaagaggt c.*1260
. . . . . . g.44903
gaccataaagatcacaccaatttagaatgaatattaaagtctgagaaatttacaaaaggg c.*1320
. . . . . . g.44963
actctatggactcgattttaccatatggaatagggatccacttctctgttaacctacaaa c.*1380
. . . . . . g.45023
acgtatttatctggccattgcacttcggataattttcatttttaattcctcttggtgtca c.*1440
. . . . . . g.45083
aatttttaagtaatttcatgcacacaggagaaaatgcaatttgataatcagtttccacta c.*1500
. . . . . . g.45143
cattcggaggtcaagaaagcagtatatattctttcacaaggcatccatactgtttaatat c.*1560
. . . . . . g.45203
ttatagagttcatagaaatacatcaataagctcctaaattatagagcctcaattttggtt c.*1620
. . . . . . g.45263
tttctcatttgaaatgtttttgatttatcaatatttgtggtttaactttgtgggggtgtc c.*1680
. . . . . . g.45323
caggcagtagatcattttttgtctatttttaaccaaataagaataacactcaagactatg c.*1740
. . . . . . g.45383
ttctccatcccaacacatcacttaccacttgcactattcttaataggcctaaaatagtga c.*1800
. . . . . . g.45443
gcatatataatcaaaataatacttcatacaacatatacttccatgcactcttcatgtaat c.*1860
. . . . . . g.45503
cacatatgtgcatagatacacaatcgtattacataaaacacccttgaaaatatatgactt c.*1920
. . . . . . g.45563
tgaataaaataaagctaccatgttaatacatcattttttgtttcttcctaattaacaaaa c.*1980
. . . . . . g.45623
gggctctataatgattaggagagctgtaaggccattctttagtcattccaagtgtatatt c.*2040
. . . . . . g.45683
tgtatcacaccagttacttgtgttcattgacaccaaatattttcaagctttttgtgagaa c.*2100
. . . . . . g.45743
agagattcttgccttgaggctctgcagtggcaaatggtaggggcaatagcgctccctttt c.*2160
. . . . . . g.45803
cacctgaaatgccttcagctcaggccttgggagtgaggtgtgggagtagccaccagcctc c.*2220
. . . . . . g.45863
ccactgactaggcatgttaggaattagacaaggatggagagactggttttttccagcctt c.*2280
. . . . . . g.45923
ggtttggaagcttgtctcaaaaaccattacaaaatcttaaccttcaaatacattctaaat c.*2340
. . . . . . g.45983
cactttaatttagaagataggtgagcaacttgagtgatcccaaaccaaactaacagtgct c.*2400
. . . . . . g.46043
ggtttgtccgacacccaaagcccacttcacacatttataaggacagagatttggtaactc c.*2460
. . . . . . g.46103
atttgggtattttgtcagttttaacccttaatatacaggtatcccagctttgggcacatg c.*2520
. . . . . . g.46163
tatgtccattcactttcaggaaggggtgtcagtactttctttctgtgtggtgaaaacata c.*2580
. . . . . . g.46223
agccatggtgaactgataatttttgtttttaaattatttatattactgaattggcaaaat c.*2640
. . . . . . g.46283
tacagttcacactgcagagctaggttgtcctattggcataaaacaaaccagcaacttttc c.*2700
. . . . . . g.46343
tcatgtgtttggagttaaaatgtgtttttcagttataatttcaatttttaaatttcttgg c.*2760
. . . . . . g.46403
tgctttgtctaattaattacatcccataacttgtcaggatagttgctccaactgaattgc c.*2820
. . . . . . g.46463
tatcatttggctggatgggggtgaagtatgtcttcaaaatatattgaagtaagttcatca c.*2880
. . . . . . g.46523
aacatgtttagacttcctctcattgctggagacagcccagtgtagagattggcacttccc c.*2940
. . . . . . g.46583
tgtccagcactacaacttaattgctctatgcctcagtttccccataatacccttttccaa c.*3000
. . . . . . g.46643
cctacctcacaaggttatcagaaagatcaaattaaataatagatgtgaaaatgctttgaa c.*3060
. . . . . . g.46703
aatgtttttaagtgctatgcatatttatagagttattatagttattcaaatccataagca c.*3120
. . . . . . g.46763
ggttatttttatttttttactgtttgaaaagaaataagtagtgtcattcatatgagttcc c.*3180
. . . . . . g.46823
tgagtggatatgcgaatctttggtcttctcgacaggtgccctttctcttaccactagttg c.*3240
. . . . . . g.46883
cttacaaaaatagcacccaaacacatggcacttggaagaaaaagacccactgaatctgag c.*3300
. . . . . . g.46943
aaagtactttctggtggcaaatgaatttatcattttagtatagttttcgataaaggatat c.*3360
. . . . . . g.47003
agcaacatcttttgataattgtgctttacaacttgaatgctgattcaaggcattatttgg c.*3420
. . . . . . g.47063
atgtgagtttaatcttttcagccttgtaaatgggaaaatatatattaaaattgattgtca c.*3480
. . . . . . g.47123
aatacagcatttctttggaaaccaccttaaaacattagtgctatggttatgagtgtatgt c.*3540
. . . . . . g.47183
gccagtacttaccagtcaatgcattgtggatatgagctttcgttgactgcttctctgcag c.*3600
. . . . . . g.47243
tcgttgatgctaataaatattgtcctgtttcttcatataataaattaatttttcaatttc c.*3660
g.47251
tccttgta c.*3668
(downstream sequence)
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