(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the LCK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering LCK transcript NM_001042771.1.
(upstream sequence)
g.23873
g c.-121
. . . . . . g.23933
tgtgaatttacttgtagcctgagggctcagagggagcaccggtttggagctgggaccccc c.-61
. . . . . . | 02 g.24091
tattttagcttttctgtggctggtgaatggggatcccaggatctcacaatctcag | ggacc c.-1
. . . . . . g.24151
ATGGGCTGTGGCTGCAGCTCACACCCGGAAGATGACTGGATGGAAAACATCGATGTGTGT c.60
M G C G C S S H P E D D W M E N I D V C p.20
. . . . | 03 . . g.24513
GAGAACTGCCATTATCCCATAGTCCCACTGGATGGCAAGGGCACG | CTGCTCATCCGAAAT c.120
E N C H Y P I V P L D G K G T | L L I R N p.40
. . . . . . g.24573
GGCTCTGAGGTGCGGGACCCACTGGTTACCTACGAAGGCTCCAATCCGCCGGCTTCCCCA c.180
G S E V R D P L V T Y E G S N P P A S P p.60
| 04. . . . . . g.24807
CTGCAAG | ACAACCTGGTTATCGCTCTGCACAGCTATGAGCCCTCTCACGACGGAGATCTG c.240
L Q D | N L V I A L H S Y E P S H D G D L p.80
. . . | 05 . . g.25104
GGCTTTGAGAAGGGGGAACAGCTCCGCATCCTGGAGCA | GAGCGGCGAGTGGTGGAAGGCG c.300
G F E K G E Q L R I L E Q | S G E W W K A p.100
. . . . . . g.25164
CAGTCCCTGACCACGGGCCAGGAAGGCTTCATCCCCTTCAATTTTGTGGCCAAAGCGAAC c.360
Q S L T T G Q E G F I P F N F V A K A N p.120
. | 06. . . . . g.25373
AGCCTGGAGCCCGAACC | CTGGTTCTTCAAGAACCTGAGCCGCAAGGACGCGGAGCGGCAG c.420
S L E P E P | W F F K N L S R K D A E R Q p.140
. . . . . . g.25433
CTCCTGGCGCCCGGGAACACTCACGGCTCCTTCCTCATCCGGGAGAGCGAGAGCACCGCG c.480
L L A P G N T H G S F L I R E S E S T A p.160
| 07 . . . . . . g.25734
G | GATCGTTTTCACTGTCGGTCCGGGACTTCGACCAGAACCAGGGAGAGGTGGTGAAACAT c.540
G | S F S L S V R D F D Q N Q G E V V K H p.180
. . . . . . g.25794
TACAAGATCCGTAATCTGGACAACGGTGGCTTCTACATCTCCCCTCGAATCACTTTTCCC c.600
Y K I R N L D N G G F Y I S P R I T F P p.200
. . . | 08 . . . g.26127
GGCCTGCATGAACTGGTCCGCCATTACACCA | ATGCTTCAGATGGGCTGTGCACACGGTTG c.660
G L H E L V R H Y T N | A S D G L C T R L p.220
. . . . . . g.26187
AGCCGCCCCTGCCAGACCCAGAAGCCCCAGAAGCCGTGGTGGGAGGACGAGTGGGAGGTT c.720
S R P C Q T Q K P Q K P W W E D E W E V p.240
. . . . . . g.26247
CCCAGGGAGACGCTGAAGCTGGTGGAGCGGCTGGGGGCTGGACAGTTCGGGGAGGTGTGG c.780
P R E T L K L V E R L G A G Q F G E V W p.260
| 09 . . . . . . g.26424
ATGG | GGTACTACAACGGGCACACGAAGGTGGCGGTGAAGAGCCTGAAGCAGGGCAGCATG c.840
M G | Y Y N G H T K V A V K S L K Q G S M p.280
. . . . . . g.26484
TCCCCGGACGCCTTCCTGGCCGAGGCCAACCTCATGAAGCAGCTGCAACACCAGCGGCTG c.900
S P D A F L A E A N L M K Q L Q H Q R L p.300
. . . . . . g.26544
GTTCGGCTCTACGCTGTGGTCACCCAGGAGCCCATCTACATCATCACTGAATACATGGAG c.960
V R L Y A V V T Q E P I Y I I T E Y M E p.320
| 10 . . . . . . g.29488
AATG | GGAGTCTAGTGGATTTTCTCAAGACCCCTTCAGGCATCAAGTTGACCATCAACAAA c.1020
N G | S L V D F L K T P S G I K L T I N K p.340
. . | 11 . . . . g.29641
CTCCTGGACATGGCAGCCCAA | ATTGCAGAAGGCATGGCATTCATTGAAGAGCGGAATTAT c.1080
L L D M A A Q | I A E G M A F I E E R N Y p.360
. . . . . . g.29701
ATTCATCGTGACCTTCGGGCTGCCAACATTCTGGTGTCTGACACCCTGAGCTGCAAGATT c.1140
I H R D L R A A N I L V S D T L S C K I p.380
. . . . . | 12 . g.29845
GCAGACTTTGGCCTAGCACGCCTCATTGAGGACAACGAGTACACAGCCAGGGAGG | GGGCC c.1200
A D F G L A R L I E D N E Y T A R E G | A p.400
. . . . . . g.29905
AAGTTTCCCATTAAGTGGACAGCGCCAGAAGCCATTAACTACGGGACATTCACCATCAAG c.1260
K F P I K W T A P E A I N Y G T F T I K p.420
. . . . . . g.29965
TCAGATGTGTGGTCTTTTGGGATCCTGCTGACGGAAATTGTCACCCACGGCCGCATCCCT c.1320
S D V W S F G I L L T E I V T H G R I P p.440
| 13. . . . . . g.35328
TACCCAG | GGATGACCAACCCGGAGGTGATTCAGAACCTGGAGCGAGGCTACCGCATGGTG c.1380
Y P G | M T N P E V I Q N L E R G Y R M V p.460
. . . . . . g.35388
CGCCCTGACAACTGTCCAGAGGAGCTGTACCAACTCATGAGGCTGTGCTGGAAGGAGCGC c.1440
R P D N C P E E L Y Q L M R L C W K E R p.480
. . . . . . g.35448
CCAGAGGACCGGCCCACCTTTGACTACCTGCGCAGTGTGCTGGAGGACTTCTTCACGGCC c.1500
P E D R P T F D Y L R S V L E D F F T A p.500
. . . g.35478
ACAGAGGGCCAGTACCAGCCTCAGCCTTGA c.1530
T E G Q Y Q P Q P X p.509
. . . . . . g.35538
gaggccttgagaggccctggggttctccccctttctctccagcctgacttggggagatgg c.*60
. . . . . . g.35598
agttcttgtgccatagtcacatggcctatgcacatatggactctgcacatgaatcccacc c.*120
. . . . . . g.35658
cacatgtgacacatatgcaccttgtgtctgtacacgtgtcctgtagttgcgtggactctg c.*180
. . . . . . g.35718
cacatgtcttgtacatgtgtagcctgtgcatgtatgtcttggacactgtacaaggtaccc c.*240
. . . . . . g.35778
ctttctggctctcccatttcctgagaccacagagagaggggagaagcctgggattgacag c.*300
. . . . . . g.35838
aagcttctgcccacctacttttctttcctcagatcatccagaagttcctcaagggccagg c.*360
. . . . . . g.35898
actttatctaatacctctgtgtgctcctccttggtgcctggcctggcacacatcaggagt c.*420
. . g.35927
tcaataaatgtctgttgatgactgttgta c.*449
(downstream sequence)
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