(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ITK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering ITK transcript NM_005546.3.
(upstream sequence)
. . g.1022
tgcattctttgccccaaaactc c.-61
. . . . . . g.1082
tttcctttggttgtgctaagaggtgatgcccaaggtgcaccacctttcaagaactggatc c.-1
. . . . . . g.1142
ATGAACAACTTTATCCTCCTGGAAGAACAGCTCATCAAGAAATCCCAACAAAAGAGAAGA c.60
M N N F I L L E E Q L I K K S Q Q K R R p.20
. . . . . . g.1202
ACTTCTCCCTCGAACTTTAAAGTCCGCTTCTTTGTGTTAACCAAAGCCAGCCTGGCATAC c.120
T S P S N F K V R F F V L T K A S L A Y p.40
. | 02 . . . . g.29035
TTTGAAGATCGTCATGGG | AAGAAGCGCACGCTGAAGGGGTCCATTGAGCTCTCCCGAATC c.180
F E D R H G | K K R T L K G S I E L S R I p.60
. . . . . . g.29095
AAATGTGTTGAGATTGTGAAAAGTGACATCAGCATCCCATGCCACTATAAATACCCGTTT c.240
K C V E I V K S D I S I P C H Y K Y P F p.80
| 03 . . . . . . g.31448
CAG | GTGGTGCATGACAACTACCTCCTATATGTGTTTGCTCCAGATCGTGAGAGCCGGCAG c.300
Q | V V H D N Y L L Y V F A P D R E S R Q p.100
. . | 04 . . . . g.34330
CGCTGGGTGCTGGCCCTTAAAGAAG | AAACGAGGAATAATAACAGTTTGGTGCCTAAATAT c.360
R W V L A L K E E | T R N N N S L V P K Y p.120
. . . . . . g.34390
CATCCTAATTTCTGGATGGATGGGAAGTGGAGGTGCTGTTCTCAGCTGGAGAAGCTTGCA c.420
H P N F W M D G K W R C C S Q L E K L A p.140
. . . | 05 . . . g.37996
ACAGGCTGTGCCCAATATGATCCAACCAAGAATG | CTTCAAAGAAGCCTCTTCCTCCTACT c.480
T G C A Q Y D P T K N A | S K K P L P P T p.160
. | 06 . . . . . g.43011
CCTGAAGACAACAGG | CGACCACTTTGGGAACCTGAAGAAACTGTGGTCATTGCCTTATAT c.540
P E D N R | R P L W E P E E T V V I A L Y p.180
. . . . . . g.43071
GACTACCAAACCAATGATCCTCAGGAACTCGCACTGCGGCGCAACGAAGAGTACTGCCTG c.600
D Y Q T N D P Q E L A L R R N E E Y C L p.200
. . . . | 07. . g.48412
CTGGACAGTTCTGAGATTCACTGGTGGAGAGTCCAGGACAGGAATGG | GCATGAAGGATAT c.660
L D S S E I H W W R V Q D R N G | H E G Y p.220
. . . . . | 08 . g.52450
GTACCAAGCAGTTATCTGGTGGAAAAATCTCCAAATAATCTGGAAACCTATGA | GTGGTAC c.720
V P S S Y L V E K S P N N L E T Y E | W Y p.240
. . . . | 09 . g.58224
AATAAGAGTATCAGCCGAGACAAAGCTGAAAAACTTCTTTTGGACACA | GGCAAAGAAGGA c.780
N K S I S R D K A E K L L L D T | G K E G p.260
. . . . . . g.58284
GCCTTCATGGTAAGGGATTCCAGGACTGCAGGAACATACACCGTGTCTGTTTTCACCAAG c.840
A F M V R D S R T A G T Y T V S V F T K p.280
. | 10 . . . . . g.60214
GCTGTTGTAAG | TGAGAACAATCCCTGTATAAAGCATTATCACATCAAGGAAACAAATGAC c.900
A V V S | E N N P C I K H Y H I K E T N D p.300
. . . . . . g.60274
AATCCTAAGCGATACTATGTGGCTGAAAAGTATGTGTTCGATTCCATCCCTCTTCTCATC c.960
N P K R Y Y V A E K Y V F D S I P L L I p.320
. . | 11 . . . . g.61784
AACTATCACCAACATAATGGAGGAG | GCCTGGTGACTCGACTCCGGTATCCAGTTTGTTTT c.1020
N Y H Q H N G G G | L V T R L R Y P V C F p.340
. . . . | 12 . . g.63746
GGGAGGCAGAAAGCCCCAGTTACAGCAGGGCTGAGATACG | GGAAATGGGTGATCGACCCC c.1080
G R Q K A P V T A G L R Y G | K W V I D P p.360
. . . . . . g.63806
TCAGAGCTCACTTTTGTGCAAGAGATTGGCAGTGGGCAATTTGGGTTGGTGCATCTGGGC c.1140
S E L T F V Q E I G S G Q F G L V H L G p.380
. . . . . . g.63866
TACTGGCTCAACAAGGACAAGGTGGCTATCAAAACCATTCGGGAAGGGGCTATGTCAGAA c.1200
Y W L N K D K V A I K T I R E G A M S E p.400
. . . | 13 . . . g.64393
GAGGACTTCATAGAGGAGGCTGAAGTAATGAT | GAAACTCTCTCATCCCAAACTGGTGCAG c.1260
E D F I E E A E V M M | K L S H P K L V Q p.420
. . . . . . g.64453
CTGTATGGGGTGTGCCTGGAGCAGGCCCCCATCTGCCTGGTGTTTGAGTTCATGGAGCAC c.1320
L Y G V C L E Q A P I C L V F E F M E H p.440
. . . . . . g.64513
GGCTGCCTGTCAGATTATCTACGCACCCAGCGGGGACTTTTTGCTGCAGAGACCCTGCTG c.1380
G C L S D Y L R T Q R G L F A A E T L L p.460
. . . . . . g.64573
GGCATGTGTCTGGATGTGTGTGAGGGCATGGCCTACCTGGAAGAGGCATGTGTCATCCAC c.1440
G M C L D V C E G M A Y L E E A C V I H p.480
| 14 . . . . . g.65880
AGAGACTTG | GCTGCCAGAAATTGTTTGGTGGGAGAAAACCAAGTCATCAAGGTGTCTGAC c.1500
R D L | A A R N C L V G E N Q V I K V S D p.500
. | 15 . . . . . g.66030
TTTGGGATGACAAG | GTTCGTTCTGGATGATCAGTACACCAGTTCCACAGGCACCAAATTC c.1560
F G M T R | F V L D D Q Y T S S T G T K F p.520
. . . . . . g.66090
CCGGTGAAGTGGGCATCCCCAGAGGTTTTCTCTTTCAGTCGCTATAGCAGCAAGTCCGAT c.1620
P V K W A S P E V F S F S R Y S S K S D p.540
. | 16 . . . . . g.69000
GTGTGGTCATTTG | GTGTGCTGATGTGGGAAGTTTTCAGTGAAGGCAAAATCCCGTATGAA c.1680
V W S F G | V L M W E V F S E G K I P Y E p.560
. . . . . . g.69060
AACCGAAGCAACTCAGAGGTGGTGGAAGACATCAGTACCGGATTTCGGTTGTACAAGCCC c.1740
N R S N S E V V E D I S T G F R L Y K P p.580
. . . . . | 17 . g.72719
CGGCTGGCCTCCACACACGTCTACCAGATTATGAATCACTGCTGGAAAGAG | AGACCAGAA c.1800
R L A S T H V Y Q I M N H C W K E | R P E p.600
. . . . . . g.72779
GATCGGCCAGCCTTCTCCAGACTGCTGCGTCAACTGGCTGAAATTGCAGAATCAGGACTT c.1860
D R P A F S R L L R Q L A E I A E S G L p.620
g.72782
TAG c.1863
X p.620
. . . . . . g.72842
tagagactgagtaccaggccacgggctgcagatcctgaatggaggaaggatatgtcctca c.*60
. . . . . . g.72902
ttccatagagcattagaagctgccaccagcccaggaccctccagaggcagcctggcctgt c.*120
. . . . . . g.72962
ggcatcagtccctgagtcaccatggaagcagcatcctgaccacagctggcagtcaagcca c.*180
. . . . . . g.73022
cagctggagggtcagccaccaagctgggagctgagccagaacaggagtgatgtctctgcc c.*240
. . . . . . g.73082
cttcctctagcctcttgtcacatgtggtgcacaaacctcaacctgacagctttcagacag c.*300
. . . . . . g.73142
cattcttgcacttcttagcaacagagagagacatgagtaagacccagattgctattttta c.*360
. . . . . . g.73202
ttgttatttttaacatgaatctaaagtttatggttccagggactttttatttgacccaac c.*420
. . . . . . g.73262
aacacagtatcccaggatatggaggcaaggggaacaaagagcatgagtctttttccaaga c.*480
. . . . . . g.73322
aaactggtgagttaagtaagattagagtgagtgtgctctgttgctgtgatgctgtcagcc c.*540
. . . . . . g.73382
acagcttcctgccgtagagaatgatagagcagctgctcacacaggaggccggatattctg c.*600
. . . . . . g.73442
agaagcagctttatgaggttttacagagtatgctgctacctctctccttgaagggagcat c.*660
. . . . . . g.73502
ggcgagacccattggatggattggggtgaacagttcaggtcccatgcttggagcattggg c.*720
. . . . . . g.73562
tatctgatgtctgcaccagaacaagagaacctctgacggtggagaaccatgtggtgcaag c.*780
. . . . . . g.73622
aagagatcttaggtctcttcttttataccaagctcatcttttataccaagctgtgcaggt c.*840
. . . . . . g.73682
gactatgcctcctcttctgcacagaatgcttccaccagcatcctgagaagaaatgattac c.*900
. . . . . . g.73742
ttctgaaaaacatccttttttccagcctctgggaatcagccccccctctctgcactatcc c.*960
. . . . . . g.73802
gatcctcatcaacagagggcagcattgtgttggtcaatgttcccttggcgagcaattgaa c.*1020
. . . . . . g.73862
acttgtttaggccctagggttgagcaattttaaggttgagactccaagtctcctaaaatt c.*1080
. . . . . . g.73922
ctaggagagaaataaagagtctgtttttgctcaaaccatcaggatggaaacagtcaggca c.*1140
. . . . . . g.73982
ctgactggggtgcttccaagaggcatgagagtgcctactctggcttgagcacttctatat c.*1200
. . . . . . g.74042
gcaaggtgaatatgtactgagctaggagacttccctgcaaaatctctgttcaccctgggt c.*1260
. . . . . . g.74102
tcacatccccatgaggtaatattattattcccattttacaaataatgtaactgaggcttt c.*1320
. . . . . . g.74162
aaaaagccaagacatctgcccaaagtgatggaactagaaagtctagagctggtattctag c.*1380
. . . . . . g.74222
cccaaatctgtctgaccgcaatacacagattctttattcctattcgacactggcttctac c.*1440
. . . . . . g.74282
tgaaaatgaaacggattgcagagggaataaatacaaagatggaaagccagtaaagaagtc c.*1500
. . . . . . g.74342
agtatagaaccactagcgaatagtgttgctctggcacagaccactgtggttgatggcatg c.*1560
. . . . . . g.74402
gccctccaacttggaataggattttccttttcctattctgtatccttaccttggtcatgt c.*1620
. . . . . . g.74462
taatgactttggagttattcagttaatgaccctttaattctcacaaccaaccagtcatgt c.*1680
. . . . . . g.74522
tgcttgaagccatttatagacgagcttcaaagcaactttaaaagattcttctgtagaagt c.*1740
. . . . . . g.74582
atgagttcttcctttaattatcattccaactttcagctgtagtcttcttgaacacttcat c.*1800
. . . . . . g.74642
gaggagggacattccctgatataagagaggatggtgttgcaattggctctttctaaatca c.*1860
. . . . . . g.74702
tgtgacgttttgactggcttgagattcagatgcataatttttaattataattattgtgaa c.*1920
. . . . . . g.74762
gtggagagcctcaagataaaactctgtcattcagaagatgattttactcagcttatccaa c.*1980
. . . . . . g.74822
aattatctctgtttactttttagaattttgtacattatcttttgggatccttaattagag c.*2040
. . . . . . g.74882
atgatttctggaacattcagtctagaaagaaaacattggaattgactgatctctgtggtt c.*2100
. . . . . . g.74942
tggtttagaaaattcccctgtgcatggtattacctttttcaagctcagattcatctaatc c.*2160
. . . . . . g.75002
ctcaactgtacatgtgtacattcttcacctcctggtgccctatcccgcaaaatgggcttc c.*2220
. . . . . . g.75062
ctgcctggtttttctcttctcacattttttaaatggtcccctgtgtttgtagagaactcc c.*2280
. . . . . . g.75122
cttatacagagttttggttctagttttatttcgtagattttgcattttgtaccttttgag c.*2340
. . . . . . g.75182
actatgtatttatatttggatcagatgcatatttattaatgtacagtcactgctagtgtt c.*2400
. . g.75203
caaaataaaaatgttacaaat c.*2421
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center