(used for variant description)
(last modified May 25, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_015967.5 in the PTPN22 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PTPN22 transcript NM_015967.5.
(upstream sequence)
. g.5010
agtaaaccac c.-121
. . . . . . g.5070
agccttcagcatgctctgctcaggcggcagcagtggctttttggaggtgtctcggccatg c.-61
. . . . . . g.5130
acacacatttgacatgccctccctcaacctacttatagactatttttcttgctctgcagc c.-1
. . . . . . g.5190
ATGGACCAAAGAGAAATTCTGCAGAAGTTCCTGGATGAGGCCCAAAGCAAGAAAATTACT c.60
M D Q R E I L Q K F L D E A Q S K K I T p.20
. . | 02. . . . g.17326
AAAGAGGAGTTTGCCAATGAATTTCTG | AAGCTGAAAAGGCAATCTACCAAGTACAAGGCA c.120
K E E F A N E F L | K L K R Q S T K Y K A p.40
. . . . . . g.17386
GACAAAACCTATCCTACAACTGTGGCTGAGAAGCCCAAGAATATCAAGAAAAACAGATAT c.180
D K T Y P T T V A E K P K N I K K N R Y p.60
. | 03 . . . . . g.17719
AAGGATATTTTGCCCT | ATGATTATAGCCGGGTAGAACTATCCCTGATAACCTCTGATGAG c.240
K D I L P Y | D Y S R V E L S L I T S D E p.80
. . . | 04 . . . g.18207
GATTCCAGCTACATCAATGCCAACTTCATTAAG | GGAGTTTATGGACCCAAGGCTTATATT c.300
D S S Y I N A N F I K | G V Y G P K A Y I p.100
. . . . . . g.18267
GCCACCCAGGGTCCTTTATCTACAACCCTCCTGGACTTCTGGAGGATGATTTGGGAATAT c.360
A T Q G P L S T T L L D F W R M I W E Y p.120
| 05 . . . | 06 . g.20146
AGTGTCCTT | ATCATTGTTATGGCATGCATGGAGTATGAAATGGGAAAG | AAAAAGTGTGAG c.420
S V L | I I V M A C M E Y E M G K | K K C E p.140
. . . . . . g.20206
CGCTACTGGGCTGAGCCAGGAGAGATGCAGCTGGAATTTGGCCCTTTCTCTGTATCCTGT c.480
R Y W A E P G E M Q L E F G P F S V S C p.160
| 07 . . . . . . g.20372
| GAAGCTGAAAAAAGGAAATCTGATTATATAATCAGGACTCTAAAAGTTAAGTTCAATAGT c.540
| E A E K R K S D Y I I R T L K V K F N S p.180
| 08 . . . . . . g.21764
| GAAACTCGAACTATCTACCAGTTTCATTACAAGAATTGGCCAGACCATGATGTACCTTCA c.600
| E T R T I Y Q F H Y K N W P D H D V P S p.200
. . . . . . g.21824
TCTATAGACCCTATTCTTGAGCTCATCTGGGATGTACGTTGTTACCAAGAGGATGACAGT c.660
S I D P I L E L I W D V R C Y Q E D D S p.220
. . | 09 . . . . g.22253
GTTCCCATATGCATTCACTGCAG | TGCTGGCTGTGGAAGGACTGGTGTTATTTGTGCTATT c.720
V P I C I H C S | A G C G R T G V I C A I p.240
. . . | 10 . . . g.24679
GATTATACATGGATGTTGCTAAAAGATGGG | ATAATTCCTGAGAACTTCAGTGTTTTCAGT c.780
D Y T W M L L K D G | I I P E N F S V F S p.260
. . . . | 11 . g.28139
TTGATCCGGGAAATGCGGACACAGAGGCCTTCATTAGTTCAAACGCAG | GAACAATATGAA c.840
L I R E M R T Q R P S L V Q T Q | E Q Y E p.280
. . . . . . g.28199
CTGGTCTACAATGCTGTATTAGAACTATTTAAGAGACAGATGGATGTTATCAGAGATAAA c.900
L V Y N A V L E L F K R Q M D V I R D K p.300
. | 12 . . . . . g.38178
CATTCTGGAACAGAG | AGTCAAGCAAAGCATTGTATTCCTGAGAAAAATCACACTCTCCAA c.960
H S G T E | S Q A K H C I P E K N H T L Q p.320
. . . | 13 . . . g.38374
GCAGACTCTTATTCTCCTAATTTACCAAAAAG | TACCACAAAAGCAGCAAAAATGATGAAC c.1020
A D S Y S P N L P K S | T T K A A K M M N p.340
. . . . . . g.38434
CAACAAAGGACAAAAATGGAAATCAAAGAATCTTCTTCCTTTGACTTTAGGACTTCTGAA c.1080
Q Q R T K M E I K E S S S F D F R T S E p.360
. . . . . . g.38494
ATAAGTGCAAAAGAAGAGCTAGTTTTGCACCCTGCTAAATCAAGCACTTCTTTTGACTTT c.1140
I S A K E E L V L H P A K S S T S F D F p.380
. . . . . . g.38554
CTGGAGCTAAATTACAGTTTTGACAAAAATGCTGACACAACCATGAAATGGCAGACAAAG c.1200
L E L N Y S F D K N A D T T M K W Q T K p.400
. . . . . . g.38614
GCATTTCCAATAGTTGGGGAGCCTCTTCAGAAGCATCAAAGTTTGGATTTGGGCTCTCTT c.1260
A F P I V G E P L Q K H Q S L D L G S L p.420
. . . . . . g.38674
TTGTTTGAGGGATGTTCTAATTCTAAACCTGTAAATGCAGCAGGAAGATATTTTAATTCA c.1320
L F E G C S N S K P V N A A G R Y F N S p.440
. . . . . . g.38734
AAGGTGCCAATAACACGGACCAAATCAACTCCTTTTGAATTGATACAGCAGAGAGAAACC c.1380
K V P I T R T K S T P F E L I Q Q R E T p.460
. . . . . . g.38794
AAGGAGGTGGACAGCAAGGAAAACTTTTCTTATTTGGAATCTCAACCACATGATTCTTGT c.1440
K E V D S K E N F S Y L E S Q P H D S C p.480
. . . . . . g.38854
TTTGTAGAGATGCAGGCTCAAAAAGTAATGCATGTTTCTTCAGCAGAACTGAATTATTCA c.1500
F V E M Q A Q K V M H V S S A E L N Y S p.500
. . . . . . g.38914
CTGCCATATGACTCTAAACACCAAATACGTAATGCCTCTAATGTAAAGCACCATGACTCT c.1560
L P Y D S K H Q I R N A S N V K H H D S p.520
. . . . . . g.38974
AGTGCTCTTGGTGTATATTCTTACATACCTTTAGTGGAAAATCCTTATTTTTCATCATGG c.1620
S A L G V Y S Y I P L V E N P Y F S S W p.540
. . . . . . g.39034
CCTCCAAGTGGTACCAGTTCTAAGATGTCTCTTGATTTACCTGAGAAGCAAGATGGAACT c.1680
P P S G T S S K M S L D L P E K Q D G T p.560
. . . . . . g.39094
GTTTTTCCTTCTTCTCTGTTGCCAACATCCTCTACATCCCTCTTCTCTTATTACAATTCA c.1740
V F P S S L L P T S S T S L F S Y Y N S p.580
. . . . . . g.39154
CATGATTCTTTATCACTGAATTCTCCAACCAATATTTCCTCACTATTGAACCAGGAGTCA c.1800
H D S L S L N S P T N I S S L L N Q E S p.600
. | 14 . . . . . g.41810
GCTGTACTAG | CAACTGCTCCAAGGATAGATGATGAAATCCCCCCTCCACTTCCTGTATGG c.1860
A V L A | T A P R I D D E I P P P L P V W p.620
. . . | 15 . . . g.42340
ACACCTGAATCATTTATTGTGGTTGAGGAAGCTG | GAGAATTCTCACCAAATGTTCCCAAA c.1920
T P E S F I V V E E A G | E F S P N V P K p.640
. . . . . . g.42400
TCCTTATCCTCAGCTGTGAAGGTAAAAATTGGAACATCACTGGAATGGGGTGGAACATCT c.1980
S L S S A V K V K I G T S L E W G G T S p.660
. . . . | 16 . . g.43630
GAACCAAAGAAATTTGATGACTCTGTGATACTTAGACCAAGCAAG | AGTGTAAAACTCCGA c.2040
E P K K F D D S V I L R P S K | S V K L R p.680
. | 17 . . . . . g.46771
AGTCCTAAATCAG | AACTACATCAAGATCGTTCTTCTCCCCCACCTCCTCTCCCAGAAAGA c.2100
S P K S E | L H Q D R S S P P P P L P E R p.700
. . . | 18 . . . g.47072
ACTCTAGAGTCCTTCTTTCTTGCCGATGAAGATT | GTATGCAGGCCCAATCTATAGAAACA c.2160
T L E S F F L A D E D C | M Q A Q S I E T p.720
. . . . . . g.47132
TATTCTACTAGCTATCCTGACACCATGGAAAATTCAACATCTTCAAAACAGACACTGAAG c.2220
Y S T S Y P D T M E N S T S S K Q T L K p.740
. . . | 19 . . . g.51611
ACTCCTGGAAAAAGTTTCACAAGGAGTAAG | AGTTTGAAAATTTTGCGAAACATGAAAAAG c.2280
T P G K S F T R S K | S L K I L R N M K K p.760
| 20 . . . . . . g.57158
A | GTATCTGTAATTCTTGCCCACCAAACAAGCCTGCAGAATCTGTTCAGTCAAATAACTCC c.2340
S | I C N S C P P N K P A E S V Q S N N S p.780
. | 21 . . . . g.61825
AGCTCATTTCTGAATTTTG | GTTTTGCAAACCGTTTTTCAAAACCCAAAGGACCAAGGAAT c.2400
S S F L N F G | F A N R F S K P K G P R N p.800
. . g.61849
CCACCACCAACTTGGAATATTTAA c.2424
P P P T W N I X p.807
. . . . . . g.61909
taaaactccagatttataataatatgggctgcaagtacacctgcaaataaaactactaga c.*60
. . . . . . g.61969
atactgctagttaaaataagtgctctatatgcataatatcaaatatgaagatatgctaat c.*120
. . . . . . g.62029
gtgttaatagcttttaaaagaaaagcaaaatgccaataagtgccagttttgcattttcat c.*180
. . . . . . g.62089
atcatttgcattgagttgaaaactgcaaataaaagtttgtcacttgagcttatgtacaga c.*240
. . . . . . g.62149
atgctatatgagaaacacttttagaatggatttatttttcatttttgccagttattttta c.*300
. . . . . . g.62209
ttttcttttacttttctacataaacataaacttcaaaaggtttgtaagatttggatctca c.*360
. . . . . . g.62269
actaatttctacattgccagaatatactataaaaagttaaaaaaaaaacttactttgtgg c.*420
. . . . . . g.62329
gttgcaatacaaactgctcttgacaatgactattccctgacagttatttttgcctaaatg c.*480
. . . . . . g.62389
gagtataccttgtaaatcttcccaaatgttgtggaaaactggaatattaagaaaatgaga c.*540
. . . . . . g.62449
aattatatttattagaataaaatgtgcaaataatgacaattatttgaatgtaacaaggaa c.*600
. . . . . . g.62509
ttcaactgaaatcctgataagttttaaccaaagtcattaaattaccaattctagaaaagt c.*660
. . . . . . g.62569
aatcaatgaaatataatagctatcttttggtagcaaaagatataaattgtatatgtttat c.*720
. . . . . . g.62629
acaggatctttcagatcatgtgcaatttttatctaaccaatcagaaatactagtttaaaa c.*780
. . . . . . g.62689
tgaatttctatatgaatatggatctgccataagaaaatctagttcaactctaattttatg c.*840
. . . . . . g.62749
tagtaaataaattggcaggtaattgtttttacaaagaatccacctgacttcccctaatgc c.*900
. . . . . . g.62809
attaaaaatatttttatttaaataactttatttataacttttagaaacatgtagtattgt c.*960
. . . . . . g.62869
ttaaacatcatttgttcttcagtatttttcatttggaagtccaatagggcaaattgaatg c.*1020
. . . . . . g.62929
aagtattattatctgtctcttgtagtacaatgtatccaacagacactcaataaacttttt c.*1080
. g.62943
ggttgttaaactga c.*1094
(downstream sequence)
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