(used for variant description)
(last modified January 31, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_001017995.2 in the SH3PXD2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering SH3PXD2B transcript NM_001017995.2.
(upstream sequence)
. . . . . g.5051
agtgcgcgccgagcgaagggcggcggcggtggcggcggcggctcgtgctcg c.-121
. . . . . . g.5111
gccccggctgcgattgcgctcagctccaggttccctgcccgcggcggcgcgcccccagcg c.-61
. . . . . . g.5171
ctccctgcaccccgcgccacccgcacccgcgctcggcccgctgcgggcggaggagcggcc c.-1
. . . . . . g.5231
ATGCCGCCGCGGCGCAGCATCGTGGAGGTGAAGGTGCTAGACGTGCAGAAGCGGCGGGTG c.60
M P P R R S I V E V K V L D V Q K R R V p.20
. | 02 . . . . . g.37072
CCCAACAAGCATTAT | GTCTACATCATCCGGGTCACGTGGTCCAGCGGCTCCACCGAGGCC c.120
P N K H Y | V Y I I R V T W S S G S T E A p.40
. . . | 03 . . . g.53195
ATTTACCGGCGCTACAGCAAGTTTTTTGACCTCCAG | ATGCAGATGTTGGACAAATTTCCC c.180
I Y R R Y S K F F D L Q | M Q M L D K F P p.60
. . . . . | 04 . g.64892
ATGGAAGGAGGACAGAAGGACCCCAAGCAGCGGATCATCCCCTTTCTGCCAG | GTAAGATT c.240
M E G G Q K D P K Q R I I P F L P G | K I p.80
. . . . . . g.64952
CTCTTCAGACGAAGCCACATCCGGGACGTGGCTGTCAAACGCCTGATACCAATTGATGAA c.300
L F R R S H I R D V A V K R L I P I D E p.100
| 05 . . . . . g.77447
TACTGTAAG | GCCCTCATCCAGCTGCCCCCCTACATCTCTCAGTGTGATGAGGTGCTGCAG c.360
Y C K | A L I Q L P P Y I S Q C D E V L Q p.120
. . . . | 06 . . g.85727
TTCTTTGAGACAAGACCTGAGGACCTGAATCCCCCCAAAGA | GGAGCACATTGGGAAAAAG c.420
F F E T R P E D L N P P K E | E H I G K K p.140
| 07. . . . . . g.96707
AAATCTG | GGGGTGACCAAACCTCAGTGGACCCCATGGTCCTGGAGCAGTATGTGGTGGTA c.480
K S G | G D Q T S V D P M V L E Q Y V V V p.160
. . . . . . g.96767
GCCAACTACCAGAAGCAGGAGAGTTCGGAGATCAGCCTCAGCGTGGGGCAGGTGGTGGAC c.540
A N Y Q K Q E S S E I S L S V G Q V V D p.180
. . | 08 . . . . g.100684
ATCATCGAGAAGAATGAGTCAG | GTTGGTGGTTCGTCAGCACTGCCGAGGAGCAAGGCTGG c.600
I I E K N E S G | W W F V S T A E E Q G W p.200
. . . . . . g.100744
GTCCCTGCAACGTGCCTCGAAGGCCAGGATGGGGTGCAGGATGAGTTTTCTCTGCAGCCT c.660
V P A T C L E G Q D G V Q D E F S L Q P p.220
| 09. . . . . . g.105571
GAAGAAG | AGGAGAAGTACACAGTCATCTACCCGTACACAGCTCGGGACCAGGATGAAATG c.720
E E E | E K Y T V I Y P Y T A R D Q D E M p.240
. . . . . . g.105631
AACCTGGAGAGAGGGGCTGTGGTGGAGGTCATCCAGAAAAACCTGGAAGGCTGGTGGAAG c.780
N L E R G A V V E V I Q K N L E G W W K p.260
| 10 . . . . . . g.108989
ATCAG | GTACCAGGGCAAAGAAGGCTGGGCCCCCGCCTCCTACCTAAAGAAGAACAGTGGG c.840
I R | Y Q G K E G W A P A S Y L K K N S G p.280
. . . . . . g.109049
GAGCCCTTGCCCCCGAAGCCAGGCCCTGGCTCACCCTCCCACCCGGGTGCCCTTGACTTG c.900
E P L P P K P G P G S P S H P G A L D L p.300
. . . . . . g.109109
GATGGTGTTTCCCGGCAGCAGAACGCGGTGGGCAGGGAGAAGGAGCTGCTCAGCAGCCAG c.960
D G V S R Q Q N A V G R E K E L L S S Q p.320
. . . . . | 11 . g.112199
AGGGACGGGCGGTTTGAAGGCCGCCCGGTGCCCGACGGTGACGCCAAGCAGA | GATCACCA c.1020
R D G R F E G R P V P D G D A K Q R | S P p.340
. . . . | 12 . . g.113280
AAGATGAGGCAGAGACCCCCTCCTCGCCGGGACATGACCATT | CCTCGAGGCCTCAACCTG c.1080
K M R Q R P P P R R D M T I | P R G L N L p.360
. . . . . . g.113340
CCGAAGCCGCCCATCCCGCCCCAAGTGGAGGAAGAGTATTACACCATCGCCGAATTCCAG c.1140
P K P P I P P Q V E E E Y Y T I A E F Q p.380
. . . . | 13 . g.119619
ACAACCATCCCAGACGGCATCAGCTTCCAGGCAGGCCTGAAGGTCGAG | GTGATCGAGAAA c.1200
T T I P D G I S F Q A G L K V E | V I E K p.400
. . . . . . g.119679
AACTTGAGTGGCTGGTGGTACATTCAGATTGAAGATAAGGAAGGGTGGGCCCCGGCCACC c.1260
N L S G W W Y I Q I E D K E G W A P A T p.420
. . . . . . g.119739
TTCATTGACAAGTACAAGAAGACGAGCAACGCGTCGAGACCCAACTTTCTGGCTCCCCTG c.1320
F I D K Y K K T S N A S R P N F L A P L p.440
. . . . . . g.119799
CCCCACGAGGTGACCCAGCTCCGGCTGGGGGAAGCAGCAGCGCTGGAGAACAACACGGGC c.1380
P H E V T Q L R L G E A A A L E N N T G p.460
. . . . . . g.119859
AGCGAAGCCACGGGCCCCTCCCGGCCCCTGCCTGACGCACCGCATGGTGTCATGGACTCG c.1440
S E A T G P S R P L P D A P H G V M D S p.480
. . . . . . g.119919
GGGTTGCCATGGTCTAAAGACTGGAAGGGCAGTAAGGATGTCCTGAGGAAGGCATCTTCA c.1500
G L P W S K D W K G S K D V L R K A S S p.500
. . . . . . g.119979
GACATGTCTGCGTCAGCAGGCTACGAGGAGATCTCAGACCCCGACATGGAGGAGAAGCCC c.1560
D M S A S A G Y E E I S D P D M E E K P p.520
. . . . . . g.120039
AGCCTCCCTCCGCGGAAAGAATCCATCATCAAGTCGGAGGGGGAGCTGCTGGAGCGGGAG c.1620
S L P P R K E S I I K S E G E L L E R E p.540
. . . . . . g.120099
CGGGAGCGGCAGAGGACGGAGCAGCTCCGGGGCCCCACTCCCAAGCCTCCGGGCGTGATT c.1680
R E R Q R T E Q L R G P T P K P P G V I p.560
. . . . . . g.120159
TTGCCGATGATGCCAGCCAAACACATCCCTCCAGCCCGGGACAGCAGGAGGCCAGAGCCC c.1740
L P M M P A K H I P P A R D S R R P E P p.580
. . . . . . g.120219
AAACCTGACAAAAGCAGACTGTTCCAGCTGAAAAATGACATGGGGCTGGAGTGTGGCCAC c.1800
K P D K S R L F Q L K N D M G L E C G H p.600
. . . . . . g.120279
AAGGTCTTGGCCAAGGAAGTGAAGAAGCCCAACCTCCGGCCCATCTCCAAATCCAAAACT c.1860
K V L A K E V K K P N L R P I S K S K T p.620
. . . . . . g.120339
GACCTGCCAGAGGAGAAGCCAGATGCCACTCCCCAGAATCCCTTCTTGAAGTCCAGACCT c.1920
D L P E E K P D A T P Q N P F L K S R P p.640
. . . . . . g.120399
CAGGTTAGGCCAAAACCAGCTCCTTCCCCCAAAACGGAGCCACCTCAGGGCGAAGACCAA c.1980
Q V R P K P A P S P K T E P P Q G E D Q p.660
. . . . . . g.120459
GTCGACATCTGCAACCTCAGGAGTAAGCTCAGGCCTGCCAAGTCCCAAGACAAGTCCTTG c.2040
V D I C N L R S K L R P A K S Q D K S L p.680
. . . . . . g.120519
TTGGATGGGGAGGGCCCCCAGGCAGTAGGGGGCCAAGACGTGGCCTTCAGCCGAAGCTTC c.2100
L D G E G P Q A V G G Q D V A F S R S F p.700
. . . . . . g.120579
CTCCCAGGAGAGGGGCCTGGCCGCGCCCAGGACAGGACGGGCAAACAGGATGGTCTCAGC c.2160
L P G E G P G R A Q D R T G K Q D G L S p.720
. . . . . . g.120639
CCAAAAGAGATTTCCTGCAGAGCCCCTCCGAGGCCAGCCAAGACCACAGATCCTGTGTCT c.2220
P K E I S C R A P P R P A K T T D P V S p.740
. . . . . . g.120699
AAGAGCGTGCCTGTTCCTCTCCAAGAGGCTCCCCAGCAGAGACCTGTGGTCCCACCCCGC c.2280
K S V P V P L Q E A P Q Q R P V V P P R p.760
. . . . . . g.120759
AGACCACCTCCCCCAAAGAAAACCTCTTCGTCATCCAGGCCGCTCCCAGAGGTCAGAGGT c.2340
R P P P P K K T S S S S R P L P E V R G p.780
. . . . . . g.120819
CCACAGTGTGAAGGCCACGAAAGCAGGGCAGCTCCCACCCCAGGCCGTGCTCTCCTCGTC c.2400
P Q C E G H E S R A A P T P G R A L L V p.800
. . . . . . g.120879
CCTCCAAAAGCCAAACCTTTTCTCTCCAACTCTTTGGGGGGCCAGGATGACACGCGAGGC c.2460
P P K A K P F L S N S L G G Q D D T R G p.820
. . . . . . g.120939
AAAGGCAGCCTGGGGCCATGGGGGACCGGCAAGATTGGAGAAAACAGGGAGAAAGCAGCT c.2520
K G S L G P W G T G K I G E N R E K A A p.840
. . . . . . g.120999
GCAGCCTCTGTCCCCAATGCCGACGGCCTGAAGGACTCTTTGTATGTGGCCGTGGCCGAC c.2580
A A S V P N A D G L K D S L Y V A V A D p.860
. . . . . . g.121059
TTTGAAGGAGACAAAGACACCAGCAGCTTCCAGGAAGGGACAGTGTTTGAAGTCCGGGAG c.2640
F E G D K D T S S F Q E G T V F E V R E p.880
. . . . . . g.121119
AAGAACAGCAGTGGCTGGTGGTTCTGCCAGGTCCTGAGCGGAGCCCCTTCCTGGGAAGGG c.2700
K N S S G W W F C Q V L S G A P S W E G p.900
. . . g.121155
TGGATTCCTTCCAACTATCTCAGAAAGAAGCCGTAG c.2736
W I P S N Y L R K K P X p.911
. . . . . . g.121215
ccgactccctttctgcctagagggcccgctggtccttgctggctttacccacgtatttaa c.*60
. . . . . . g.121275
tacgcctcttaatttatcattctccacgcagcttccaaggcagacagactctggggtact c.*120
. . . . . . g.121335
gtgacttcttgcctcccatgggtggagagtgagtttcggacacctcgggcgcccctgggc c.*180
. . . . . . g.121395
ctgatccctcctatcacagcatcactggaggctcagaacccacagcctttgctttctgtc c.*240
. . . . . . g.121455
catgtcagcatccctgccttaagagaactcctcctggccaatggcattgccacccagcag c.*300
. . . . . . g.121515
tgggaccaagactctccaagacctccaggactggatcccattgcctggagaaactccagc c.*360
. . . . . . g.121575
aagggtctctcatggcttggacatggcacagtaaggggcagccaacccagtccatgatga c.*420
. . . . . . g.121635
cttttgctccaacttcttcatgtttctaaaagcccagtggctttattcactcctcctaaa c.*480
. . . . . . g.121695
ttgcctgctaccagaaggaacttcatcctgaagaaatgcattccattaccagttccaggg c.*540
. . . . . . g.121755
aaagtgtccccttccccaaagcctcaggcccgtgggcctctgaggttccactggatgcgg c.*600
. . . . . . g.121815
ctcccccaggagtgggcctggagatccgctcagccgccctgcctcccaccttctatcttg c.*660
. . . . . . g.121875
ggaccgtggtcagccctgaagggtggttccagccccgcgtatgctgcgctttgctgctgc c.*720
. . . . . . g.121935
aggctccggtccctccagggcttttcaatgagagttcccaccccaacttggagcatttca c.*780
. . . . . . g.121995
tttttgcctacctaaagcaagaatctcaaagtttgtttgaataagaggcccattcacaag c.*840
. . . . . . g.122055
tcgtgcccttgtgagcacccctttgctgagtgcctcgtgggtgccaaacactgtacttgg c.*900
. . . . . . g.122115
cgctttgcattcatgctttgaccctcacaacctccctttatagatgaggaaattcacgct c.*960
. . . . . . g.122175
ccatgtgcccaaggacacaccagccaggaggaagagggaagaggatttgagtccaggcct c.*1020
. . . . . . g.122235
gcctgacttcagtgcctgtgccctcccctctgtaaaagacaaaccaggcagggaagagat c.*1080
. . . . . . g.122295
agaagctggctaagtggtggccaagtggcttcattgtgaggggggtgagggggcattcgt c.*1140
. . . . . . g.122355
ggctgctcccacacccaccatccctccagcccacagcagcctataccaaaggctgccctg c.*1200
. . . . . . g.122415
gactcaacagctgcatctccatgacaggagaatgccagggtcctggtggttgacacagag c.*1260
. . . . . . g.122475
ccctgttccctcttctaagctgttgccccctggggaatagagcttatggagcaacgggag c.*1320
. . . . . . g.122535
ctgaggtggcctcgagggccagcctggagggctctgagcatagcatgcagcggtcccata c.*1380
. . . . . . g.122595
gggaggcaggtaaccaagggccaggcagagctgcttcctgtgcctctccggcatttgtaa c.*1440
. . . . . . g.122655
tgtttttttcttttttcacgcactgccaaatctgttttctcccttgaagaaacccagggc c.*1500
. . . . . . g.122715
agatgtggtcatctgtcaaactgaggtctggagaggcatgactaaatcactgcagaagca c.*1560
. . . . . . g.122775
aaatcaggacccagcatttctagctcccagcccagagtaagagagcagagcagaacccct c.*1620
. . . . . . g.122835
tcccattctacccgaccgaggcagccctgccctgccctgccccgcccctccccaccctgc c.*1680
. . . . . . g.122895
cctgccccagagatctccagttcacagtgttcatcaggcgagatacttttggacccacaa c.*1740
. . . . . . g.122955
agccagttttttggggggatgctcagtgtctacctgcagtgccaaagttttgcttgaaca c.*1800
. . . . . . g.123015
gccctcttctgccgcgcctcccagctccaccccctatcacgtgggtgctggctgcttctg c.*1860
. . . . . . g.123075
cgtgaggagcttcctctgatcacctgtagcatctttagtgccttcgtccagtcggcctgc c.*1920
. . . . . . g.123135
aaatcccatttcccagagaggcttgggcagggcccacttgccacttggccctgtgcccag c.*1980
. . . . . . g.123195
agcgttgggggcagatggcagccaggggaagaagggaggtggggaagggccgccaccgct c.*2040
. . . . . . g.123255
tgagggtcccctcccttgagaggaggccccatggcagttttcctgagttcttgatccact c.*2100
. . . . . . g.123315
ttggtttaaacaacttttgtgaagctatgtgagatttgactgcatttcaaaagacaaaac c.*2160
. . . . . . g.123375
acatgtttttttctgatttgctctttgcctttcagcgacgctttcagatactttgtgagt c.*2220
. . . . . . g.123435
gtctactctgtgctaggtgctgagtagactgggatgtgtgtggctccatccctggctgga c.*2280
. . . . . . g.123495
agagctttgagtcctgtctgctgacttcactgaaggagtttctctcttgcttcattcctt c.*2340
. . . . . . g.123555
cctcccgggggtcagctgggtaggagcagacttgccctgccttcctctaggcagaaagtt c.*2400
. . . . . . g.123615
ttcctgcaaatgaaagaatctgccattctcttttgctatgatgatgatgattattctgac c.*2460
. . . . . . g.123675
atgacccgcgggtactgaagccacagtcctctctgttcactgttctctccttgagtcata c.*2520
. . . . . . g.123735
tctatggcctgaggacgtctgtatccagctccttttcctacaatggtagacacttcccca c.*2580
. . . . . . g.123795
ggcagtgggtgggtcagggtggccagtcactctcctagctgtccttgcctggggacttag c.*2640
. . . . . . g.123855
atttaccccatccaggactgtggtcgctattctgtgagcgattgatggcgcatatgcaga c.*2700
. . . . . . g.123915
actcccctggagtcatggctctagaaagtgtccaggcccatcgtgacaatggtgccaagc c.*2760
. . . . . . g.123975
accgggctggtgaccagtgcctaaacacacacgctcctttaatccttacggcaagcctgt c.*2820
. . . . . . g.124035
gaggcggataggaccagccctgatctatagtgagaaaattaaggttcagagggagaaggt c.*2880
. . . . . . g.124095
ccaaatagtggccaagctgggactgagatctcgagtttgggtttgtttggttttgttgtt c.*2940
. . . . . . g.124155
gttgttctttccctcgtgtccatgacttttctctgccattagcagggaagtgtgcggagg c.*3000
. . . . . . g.124215
gcttccagggaatcaagtgaccctccctctgaatttcggtgcctcttccccccgcccctt c.*3060
. . . . . . g.124275
gctcacacatttcagtaggtcacaggccaaatggcagcccaaaaggtgggcagagatttt c.*3120
. . . . . . g.124335
tttttcttcccctcacccctgcttattaacacaattgtgacaactactttaccttacatc c.*3180
. . . . . . g.124395
ccagggcaaacggacagcttgcggtacctccaaaaatttggaaaaccctgagtctaagac c.*3240
. . . . . . g.124455
cacctcttgataaaagaggcctttgctcacatgttctgctcggaatctttctttgccatt c.*3300
. . . . . . g.124515
ggtgggtgtatgtcgtcccagctgagactgcgggagagctgagctccagcttaaaccgct c.*3360
. . . . . . g.124575
tttaatggcccttccctactgggggatcgctggagcccatgccaggttacggtagtcatt c.*3420
. . . . . . g.124635
ttaaacctctgccacaaggccacgccatagaatcaatttccaagtcaatgttcttggccc c.*3480
. . . . . . g.124695
taaaatgtttgcgcccactgaggatttcattaccaggtggaagatgggggaacatatgcc c.*3540
. . . . . . g.124755
acgttaaagagcaagtgctgagtgtgccaggacttgagaaggaccttaggctgaggagtg c.*3600
. . . . . . g.124815
gacagtctggtatttatttcgcctctcccaagtacccagcacagagtgggaaaaagaaga c.*3660
. . . . . . g.124875
aactgctcctgccttccagtagctggcaacttgacatcaagaacaaaaacattcgtagct c.*3720
. . . . . . g.124935
ggacccccgtcctttcatcgtgcccaagtcttacatgttggcttaagctgcccccttgga c.*3780
. . . . . . g.124995
ggccgtacctttctctttggactgtgacagtggacacctaacagcctgagccatgtgtgg c.*3840
. . . . . . g.125055
ctgtcttatcccccaagggttgtccaggcccgttctgcagggctgttgtgtagactgcag c.*3900
. . . . . . g.125115
acatccatacctcaccacagaccaaagatgacctcgtgtcagactgtgggctgatgagag c.*3960
. . . . . . g.125175
gtagagcagcatgcatcgaggcctgagggtgcagggcgccctctcttggcctggaggaat c.*4020
. . . . . . g.125235
tgctcctaactagagtaagtttccacgagggtcccaggcagagctgcagagctggaaccg c.*4080
. . . . . . g.125295
gaggctccacagtccttgcctgctcatggacctccttcagagcacctttctacagactgg c.*4140
. . . . . . g.125355
actgcccagctccgtggggtggcatctggtttctggtgctattctgccaagttatcgagc c.*4200
. . . . . . g.125415
tcctcctcatgtttcaacattccatcttcccgtttctatcctcgactccaaagtaagcct c.*4260
. . . . . . g.125475
tcttagctccaatcagggatgaggggctcaacctcttctgtcctcaaagaggccaaacgc c.*4320
. . . . . . g.125535
agtgccacagtcggtagccttcacttttagatgtcctattcatgtaaaaaagaaggtgcc c.*4380
. . . . . . g.125595
cccaccaggcttacatcagcaataagcaattctaatgcaacgatggtgtccacattttac c.*4440
. . . . . . g.125655
cccagtgtgtgcccatgtatgcctttgtgcccgtgtaattattgttagcgcccctttcac c.*4500
. . . . . . g.125715
ttagaggggtgatgataaactgtggccaccttgattacaacccacatttcctgctttggg c.*4560
. . . . . . g.125775
gagcttccaagtaacaggccatttcttacctccctccaggaacagtgggcactgcccacc c.*4620
. . . . . . g.125835
acctcgtgtctgctcataggatgacgctggagatccccacacttactctaccctcttggc c.*4680
. . . . . . g.125895
aaattggcattccggtggtggtttttgtttcctttaacacattaaataaatgagtatata c.*4740
. . . . . . g.125955
ggatgtgaggggaggggtgagaacaactagctgtagcatgtgtaggctatatactttacc c.*4800
. . . . . . g.126015
atttgacttctttcctttttttttttttaaataaaaaaagtgcttgactggtttcaagct c.*4860
. g.126025
tcatcatgaa c.*4870
(downstream sequence)
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