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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999521628765 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0910248)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28883241A>GN/A show variant in all transcripts   IGV
HGNC symbol SH2B1
Ensembl transcript ID ENST00000395532
Genbank transcript ID N/A
UniProt peptide Q9NRF2
alteration type single base exchange
alteration region CDS
DNA changes c.1450A>G
cDNA.1821A>G
g.25321A>G
AA changes T484A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 484
frameshift no
known variant Reference ID: rs7498665
databasehomozygous (G/G)heterozygousallele carriers
1000G2228651087
ExAC80521666324715

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910248)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2470.927
0.2390.936
(flanking)1.370.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained253200.94mu: CCCCCAGCAGGGACA CCCA|gcag
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      484PPRIPIEEGPPTGTVHPLSAPYPP
mutated  not conserved    484GPPAGTVHPLSAPYP
Ptroglodytes  not conserved  ENSPTRG00000007940  435GPPAGTVHPLSAPYP
Mmulatta  not conserved  ENSMMUG00000023524  458PPRIPIEEGPPAGTVHPLSAPYP
Fcatus  not conserved  ENSFCAG00000003104  484GPPAGTAHPLSAPYP
Mmusculus  not conserved  ENSMUSG00000030733  484EGPPAGTVHPLSTPYP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000057679  672SRLLGGGGASLGTPF-
Dmelanogaster  all conserved  FBgn0028717  401-----INELGTSPTSGPPDIPVR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1555REGIONInteraction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).lost
494494MOD_RESPhosphotyrosine; by JAK1, JAK2 (By similarity).might get lost (downstream of altered splice site)
519519CONFLICTD -> G (in Ref. 3; BAF83021).might get lost (downstream of altered splice site)
527625DOMAINSH2.might get lost (downstream of altered splice site)
555555MUTAGENR->A: Abolishes self-association and interaction with INSR and IGF1R.might get lost (downstream of altered splice site)
624624MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2016 / 2016
position (AA) of stopcodon in wt / mu AA sequence 672 / 672
position of stopcodon in wt / mu cDNA 2387 / 2387
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 372 / 372
chromosome 16
strand 1
last intron/exon boundary 2369
theoretical NMD boundary in CDS 1947
length of CDS 2016
coding sequence (CDS) position 1450
cDNA position
(for ins/del: last normal base / first normal base)		 1821
gDNA position
(for ins/del: last normal base / first normal base)		 25321
chromosomal position
(for ins/del: last normal base / first normal base)		 28883241
original gDNA sequence snippet CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC
altered gDNA sequence snippet CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC
original cDNA sequence snippet CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC
altered cDNA sequence snippet CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC
wildtype AA sequence MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*
mutated AA sequence MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPAGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*
speed 0.76 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project