(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the PTPRC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PTPRC transcript NM_002838.3.
(upstream sequence)
. . . . . . g.1060
agtatttttggagaagttagtaaaaccgaatctgacatcatcacctagcagttcatgcag c.-121
. . . . . . g.1120
ctagcaagtggtttgttcttagggtaacagaggaggaaattgttcctcgtctgataagac c.-61
. . | 02 . . . . g.1268
aacagtggaga | aaggacgcatgctgtttcttagggacacggctgacttccagatatgacc c.-1
. . . . . . g.1328
ATGTATTTGTGGCTTAAACTCTTGGCATTTGGCTTTGCCTTTCTGGACACAGAAGTATTT c.60
M Y L W L K L L A F G F A F L D T E V F p.20
| 03. . . | 04 . . . g.58730
GTGACAG | GGCAAAGCCCAACACCTTCCCCCACTG | GATTGACTACAGCAAAGATGCCCAGT c.120
V T G | Q S P T P S P T G | L T T A K M P S p.40
. . . . . . g.58790
GTTCCACTTTCAAGTGACCCCTTACCTACTCACACCACTGCATTCTCACCCGCAAGCACC c.180
V P L S S D P L P T H T T A F S P A S T p.60
. . . . . . g.58850
TTTGAAAGAGAAAATGACTTCTCAGAGACCACAACTTCTCTTAGTCCAGACAATACTTCC c.240
F E R E N D F S E T T T S L S P D N T S p.80
. . . . . | 05 . g.61564
ACCCAAGTATCCCCGGACTCTTTGGATAATGCTAGTGCTTTTAATACCACAG | GTGTTTCA c.300
T Q V S P D S L D N A S A F N T T G | V S p.100
. . . . . . g.61624
TCAGTACAGACGCCTCACCTTCCCACGCACGCAGACTCGCAGACGCCCTCTGCTGGAACT c.360
S V Q T P H L P T H A D S Q T P S A G T p.120
. . . . . . g.61684
GACACGCAGACATTCAGCGGCTCCGCCGCCAATGCAAAACTCAACCCTACCCCAGGCAGC c.420
D T Q T F S G S A A N A K L N P T P G S p.140
. | 06 . . . . . g.64426
AATGCTATCTCAG | ATGTCCCAGGAGAGAGGAGTACAGCCAGCACCTTTCCTACAGACCCA c.480
N A I S D | V P G E R S T A S T F P T D P p.160
. . . . . . g.64486
GTTTCCCCATTGACAACCACCCTCAGCCTTGCACACCACAGCTCTGCTGCCTTACCTGCA c.540
V S P L T T T L S L A H H S S A A L P A p.180
. . . | 07. . . g.65313
CGCACCTCCAACACCACCATCACAGCGAACACCTCAG | ATGCCTACCTTAATGCCTCTGAA c.600
R T S N T T I T A N T S D | A Y L N A S E p.200
. . . . . | 08 . g.66472
ACAACCACTCTGAGCCCTTCTGGAAGCGCTGTCATTTCAACCACAACAATAG | CTACTACT c.660
T T T L S P S G S A V I S T T T I A | T T p.220
. | 09 . . . . g.68767
CCATCTAAGCCAACATGTG | ATGAAAAATATGCAAACATCACTGTGGATTACTTATATAAC c.720
P S K P T C D | E K Y A N I T V D Y L Y N p.240
. . . . . . g.68827
AAGGAAACTAAATTATTTACAGCAAAGCTAAATGTTAATGAGAATGTGGAATGTGGAAAC c.780
K E T K L F T A K L N V N E N V E C G N p.260
. . . . . . g.68887
AATACTTGCACAAACAATGAGGTGCATAACCTTACAGAATGTAAAAATGCGTCTGTTTCC c.840
N T C T N N E V H N L T E C K N A S V S p.280
. . . . . | 10 g.70127
ATATCTCATAATTCATGTACTGCTCCTGATAAGACATTAATATTAGATGTGCCACCAG | GG c.900
I S H N S C T A P D K T L I L D V P P G | p.300
. . . . . . g.70187
GTTGAAAAGTTTCAGTTACATGATTGTACACAAGTTGAAAAAGCAGATACTACTATTTGT c.960
V E K F Q L H D C T Q V E K A D T T I C p.320
. . . . . . g.70247
TTAAAATGGAAAAATATTGAAACCTTTACTTGTGATACACAGAATATTACCTACAGATTT c.1020
L K W K N I E T F T C D T Q N I T Y R F p.340
| 11. . . . . . g.71732
CAGTGTG | GTAATATGATATTTGATAATAAAGAAATTAAATTAGAAAACCTTGAACCCGAA c.1080
Q C G | N M I F D N K E I K L E N L E P E p.360
. . . . . . g.71792
CATGAGTATAAGTGTGACTCAGAAATACTCTATAATAACCACAAGTTTACTAACGCAAGT c.1140
H E Y K C D S E I L Y N N H K F T N A S p.380
. . | 12 . . . . g.74980
AAAATTATTAAAACAGATTTTGGGA | GTCCAGGAGAGCCTCAGATTATTTTTTGTAGAAGT c.1200
K I I K T D F G S | P G E P Q I I F C R S p.400
. . . . . . g.75040
GAAGCTGCACATCAAGGAGTAATTACCTGGAATCCCCCTCAAAGATCATTTCATAATTTT c.1260
E A A H Q G V I T W N P P Q R S F H N F p.420
. . | 13 . . . . g.78709
ACCCTCTGTTATATAAAAGAGACAG | AAAAAGATTGCCTCAATCTGGATAAAAACCTGATC c.1320
T L C Y I K E T E | K D C L N L D K N L I p.440
. . . . . . g.78769
AAATATGATTTGCAAAATTTAAAACCTTATACGAAATATGTTTTATCATTACATGCCTAC c.1380
K Y D L Q N L K P Y T K Y V L S L H A Y p.460
. . . . . . g.78829
ATCATTGCAAAAGTGCAACGTAATGGAAGTGCTGCAATGTGTCATTTCACAACTAAAAGT c.1440
I I A K V Q R N G S A A M C H F T T K S p.480
| 14 . . . . . . g.80142
GCTC | CTCCAAGCCAGGTCTGGAACATGACTGTCTCCATGACATCAGATAATAGTATGCAT c.1500
A P | P S Q V W N M T V S M T S D N S M H p.500
. . . . . . g.80202
GTCAAGTGTAGGCCTCCCAGGGACCGTAATGGCCCCCATGAACGTTACCATTTGGAAGTT c.1560
V K C R P P R D R N G P H E R Y H L E V p.520
. . . . . . g.80262
GAAGCTGGAAATACTCTGGTTAGAAATGAGTCGCATAAGAATTGCGATTTCCGTGTAAAA c.1620
E A G N T L V R N E S H K N C D F R V K p.540
. . . | 15 . . . g.84435
GATCTTCAATATTCAACAGACTACACTTTTAAG | GCCTATTTTCACAATGGAGACTATCCT c.1680
D L Q Y S T D Y T F K | A Y F H N G D Y P p.560
. . . | 16 . . . g.90358
GGAGAACCCTTTATTTTACATCATTCAACATCTT | ATAATTCTAAGGCACTGATAGCATTT c.1740
G E P F I L H H S T S Y | N S K A L I A F p.580
. . . . . . g.90418
CTGGCATTTCTGATTATTGTGACATCAATAGCCCTGCTTGTTGTTCTCTACAAAATCTAT c.1800
L A F L I I V T S I A L L V V L Y K I Y p.600
. . | 17 . . . | 18 g.93611
GATCTACATAAGAAAAGATCCTG | CAATTTAGATGAACAGCAGGAGCTTGTTGAAAGGG | AT c.1860
D L H K K R S C | N L D E Q Q E L V E R D | p.620
. . . . . . g.93671
GATGAAAAACAACTGATGAATGTGGAGCCAATCCATGCAGATATTTTGTTGGAAACTTAT c.1920
D E K Q L M N V E P I H A D I L L E T Y p.640
. . . . | 19 . g.94304
AAGAGGAAGATTGCTGATGAAGGAAGACTTTTTCTGGCTGAATTTCAG | AGCATCCCGCGG c.1980
K R K I A D E G R L F L A E F Q | S I P R p.660
. . . . . . g.94364
GTGTTCAGCAAGTTTCCTATAAAGGAAGCTCGAAAGCCCTTTAACCAGAATAAAAACCGT c.2040
V F S K F P I K E A R K P F N Q N K N R p.680
. | 20 . . . . g.94513
TATGTTGACATTCTTCCTT | ATGATTATAACCGTGTTGAACTCTCTGAGATAAACGGAGAT c.2100
Y V D I L P Y | D Y N R V E L S E I N G D p.700
. . . | 21 . . . g.96212
GCAGGGTCAAACTACATAAATGCCAGCTATATTGAT | GGTTTCAAAGAACCCAGGAAATAC c.2160
A G S N Y I N A S Y I D | G F K E P R K Y p.720
. | 22 . . . . . g.96367
ATTGCTGCACAAG | GTCCCAGGGATGAAACTGTTGATGATTTCTGGAGGATGATTTGGGAA c.2220
I A A Q G | P R D E T V D D F W R M I W E p.740
. . . . . | 23 . g.97128
CAGAAAGCCACAGTTATTGTCATGGTCACTCGATGTGAAGAAGGAAACAGG | AACAAGTGT c.2280
Q K A T V I V M V T R C E E G N R | N K C p.760
. . . . . . g.97188
GCAGAATACTGGCCGTCAATGGAAGAGGGCACTCGGGCTTTTGGAGATGTTGTTGTAAAG c.2340
A E Y W P S M E E G T R A F G D V V V K p.780
. . . . . | 24. g.103864
ATCAACCAGCACAAAAGATGTCCAGATTACATCATTCAGAAATTGAACATTGTAAAT | AAA c.2400
I N Q H K R C P D Y I I Q K L N I V N | K p.800
. . . . . . g.103924
AAAGAAAAAGCAACTGGAAGAGAGGTGACTCACATTCAGTTCACCAGCTGGCCAGACCAC c.2460
K E K A T G R E V T H I Q F T S W P D H p.820
. . . . . . g.103984
GGGGTGCCTGAGGATCCTCACTTGCTCCTCAAACTGAGAAGGAGAGTGAATGCCTTCAGC c.2520
G V P E D P H L L L K L R R R V N A F S p.840
. . . | 25 . . . g.104249
AATTTCTTCAGTGGTCCCATTGTGGTGCACTGCAG | TGCTGGTGTTGGGCGCACAGGAACC c.2580
N F F S G P I V V H C S | A G V G R T G T p.860
. . . . . . g.104309
TATATCGGAATTGATGCCATGCTAGAAGGCCTGGAAGCCGAGAACAAAGTGGATGTTTAT c.2640
Y I G I D A M L E G L E A E N K V D V Y p.880
. . . . . | 26 . g.106055
GGTTATGTTGTCAAGCTAAGGCGACAGAGATGCCTGATGGTTCAAGTAGAG | GCCCAGTAC c.2700
G Y V V K L R R Q R C L M V Q V E | A Q Y p.900
. . . . . . g.106115
ATCTTGATCCATCAGGCTTTGGTGGAATACAATCAGTTTGGAGAAACAGAAGTGAATTTG c.2760
I L I H Q A L V E Y N Q F G E T E V N L p.920
. . . . . . g.106175
TCTGAATTACATCCATATCTACATAACATGAAGAAAAGGGATCCACCCAGTGAGCCGTCT c.2820
S E L H P Y L H N M K K R D P P S E P S p.940
. . | 27 . . . . g.110140
CCACTAGAGGCTGAATTCCAG | AGACTTCCTTCATATAGGAGCTGGAGGACACAGCACATT c.2880
P L E A E F Q | R L P S Y R S W R T Q H I p.960
. . . . . | 28 . g.111416
GGAAATCAAGAAGAAAATAAAAGTAAAAACAGGAATTCTAATGTCATCCCAT | ATGACTAT c.2940
G N Q E E N K S K N R N S N V I P Y | D Y p.980
. . . . . . g.111476
AACAGAGTGCCACTTAAACATGAGCTGGAAATGAGTAAAGAGAGTGAGCATGATTCAGAT c.3000
N R V P L K H E L E M S K E S E H D S D p.1000
. . . . . . g.111536
GAATCCTCTGATGATGACAGTGATTCAGAGGAACCAAGCAAATACATCAATGCATCTTTT c.3060
E S S D D D S D S E E P S K Y I N A S F p.1020
| 29 . . . . . . g.112538
ATAATG | AGCTACTGGAAACCTGAAGTGATGATTGCTGCTCAGGGACCACTGAAGGAGACC c.3120
I M | S Y W K P E V M I A A Q G P L K E T p.1040
. . . . . . g.112598
ATTGGTGACTTTTGGCAGATGATCTTCCAAAGAAAAGTCAAAGTTATTGTTATGCTGACA c.3180
I G D F W Q M I F Q R K V K V I V M L T p.1060
. . | 30 . . . . g.114280
GAACTGAAACATGGAGACCAG | GAAATCTGTGCTCAGTACTGGGGAGAAGGAAAGCAAACA c.3240
E L K H G D Q | E I C A Q Y W G E G K Q T p.1080
. . . . . . g.114340
TATGGAGATATTGAAGTTGACCTGAAAGACACAGACAAATCTTCAACTTATACCCTTCGT c.3300
Y G D I E V D L K D T D K S S T Y T L R p.1100
. . | 31 . . . . g.114622
GTCTTTGAACTGAGACATTCCAAG | AGGAAAGACTCTCGAACTGTGTACCAGTACCAATAT c.3360
V F E L R H S K | R K D S R T V Y Q Y Q Y p.1120
. . . . . . g.114682
ACAAACTGGAGTGTGGAGCAGCTTCCTGCAGAACCCAAGGAATTAATCTCTATGATTCAG c.3420
T N W S V E Q L P A E P K E L I S M I Q p.1140
. . . . . . g.114742
GTCGTCAAACAAAAACTTCCCCAGAAGAATTCCTCTGAAGGGAACAAGCATCACAAGAGT c.3480
V V K Q K L P Q K N S S E G N K H H K S p.1160
. . | 32 . . . . g.116298
ACACCTCTACTCATTCACTGCAG | GGATGGATCTCAGCAAACGGGAATATTTTGTGCTTTG c.3540
T P L L I H C R | D G S Q Q T G I F C A L p.1180
. . . . . . g.116358
TTAAATCTCTTAGAAAGTGCGGAAACAGAAGAGGTAGTGGATATTTTTCAAGTGGTAAAA c.3600
L N L L E S A E T E E V V D I F Q V V K p.1200
. . . | 33 . . g.117919
GCTCTACGCAAAGCTAGGCCAGGCATGGTTTCCACATTC | GAGCAATATCAATTCCTATAT c.3660
A L R K A R P G M V S T F | E Q Y Q F L Y p.1220
. . . . . . g.117979
GACGTCATTGCCAGCACCTACCCTGCTCAGAATGGACAAGTAAAGAAAAACAACCATCAA c.3720
D V I A S T Y P A Q N G Q V K K N N H Q p.1240
. . . . . . g.118039
GAAGATAAAATTGAATTTGATAATGAAGTGGACAAAGTAAAGCAGGATGCTAATTGTGTT c.3780
E D K I E F D N E V D K V K Q D A N C V p.1260
. . . . . . g.118099
AATCCACTTGGTGCCCCAGAAAAGCTCCCTGAAGCAAAGGAACAGGCTGAAGGTTCTGAA c.3840
N P L G A P E K L P E A K E Q A E G S E p.1280
. . . . . . g.118159
CCCACGAGTGGCACTGAGGGGCCAGAACATTCTGTCAATGGTCCTGCAAGTCCAGCTTTA c.3900
P T S G T E G P E H S V N G P A S P A L p.1300
. g.118174
AATCAAGGTTCATAG c.3915
N Q G S X p.1304
. . . . . . g.118234
gaaaagacataaatgaggaaactccaaacctcctgttagctgttatttctatttttgtag c.*60
. . . . . . g.118294
aagtaggaagtgaaaataggtatacagtggattaattaaatgcagcgaaccaatatttgt c.*120
. . . . . . g.118354
agaagggttatattttactactgtggaaaaatatttaagatagttttgccagaacagttt c.*180
. . . . . . g.118414
gtacagacgtatgcttattttaaaattttatctcttattcagtaaaaaacaacttctttg c.*240
. . . . . . g.118474
taatcgttatgtgtgtatatgtatgtgtgtatgggtgtgtgtttgtgtgagagacagaga c.*300
. . . . . . g.118534
aagagagagaattctttcaagtgaatctaaaagcttttgcttttcctttgtttttatgaa c.*360
. . . . . . g.118594
gaaaaaatacattttatattagaagtgttaacttagcttgaaggatctgtttttaaaaat c.*420
. . . . . . g.118654
cataaactgtgtgcagactcaataaaatcatgtacatttctgaaatgacctcaagatgtc c.*480
. . . . . . g.118714
ctccttgttctactcatatatatctatcttatatagtttactattttacttctagagata c.*540
. . . . . . g.118774
gtacataaaggtggtatgtgtgtgtatgctactacaaaaaagttgttaactaaattaaca c.*600
. . . . . . g.118834
ttgggaaatcttatattccatatattagcatttagtccaatgtctttttaagcttattta c.*660
. . . . . . g.118894
attaaaaaatttccagtgagcttatcatgctgtctttacatggggttttcaattttgcat c.*720
. . . . . . g.118954
gctcgattattccctgtacaatatttaaaatttattgcttgatacttttgacaacaaatt c.*780
. . . . . . g.119014
aggttttgtacaattgaacttaaataaatgtcattaaaataaataaatgcaatatgtatt c.*840
. . . . . . g.119074
aatattcattgtataaaaatagaagaatacaaacatatttgttaaatatttacatatgaa c.*900
. . . . . . g.119134
atttaatatagctatttttatggaatttttcattgatatgaaaaatatgatattgcatat c.*960
. . . . . . g.119194
gcatagttcccatgttaaatcccattcataactttcattaaagcatttactttgaatttc c.*1020
. . . . . . g.119254
tccaatgcttagaatgtttttaccaggaatggatgtcgctaatcataataaaattcaacc c.*1080
. . . . . . g.119314
attatttttttcttgtttataatacattgtgttatatgttcaaatatgaaatgtgtatgc c.*1140
. . . . . . g.119374
acctattgaaatatgtttaatgcatttattaacatttgcaggacacttttacaggcccca c.*1200
. . . g.119409
attatccaatagtctaataattgtttaagatctag c.*1235
(downstream sequence)
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