Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999939414063897 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:82363404A>GN/A show variant in all transcripts   IGV
HGNC symbol SH2D4B
Ensembl transcript ID ENST00000470604
Genbank transcript ID N/A
UniProt peptide Q5SQS7
alteration type single base exchange
alteration region CDS
DNA changes c.710A>G
cDNA.710A>G
g.65747A>G
AA changes H237R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs7075840
databasehomozygous (G/G)heterozygousallele carriers
1000G36410781442
ExAC44252021824643
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0370.999
2.9411
(flanking)0.4241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased65738wt: 0.21 / mu: 0.34wt: GGACGAGTACCGACA
mu: GGACGAGTACCGACG		 ACGA|gtac
Donor gained657410.64mu: CGAGTACCGACGCCA AGTA|ccga
Donor gained657460.46mu: ACCGACGCCACTCGC CGAC|gcca
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237RRAQRARDEYRHHSLRAIQKGTVA
mutated  not conserved    237RRAQRARDEYRRHSL
Ptroglodytes  not conserved  ENSPTRG00000002687  237RRAQRARDEYRRHSL
Mmulatta  not conserved  ENSMMUG00000022098  237RRAQRARDEYRRHSL
Fcatus  not conserved  ENSFCAG00000000713  235RRSQRARNE-RRHSL
Mmusculus  not conserved  ENSMUSG00000037833  237RRAQRARDEYRRHSL
Ggallus  not conserved  ENSGALG00000002370  237HKARRARDEYRRQSL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000069374  231RKACWARDEYKRQS
Dmelanogaster  no homologue    
Celegans  all identical  F13B12.6  331ELAQKARE--KHQQMIRTSESIL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
325417DOMAINSH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1296 / 1296
position (AA) of stopcodon in wt / mu AA sequence 432 / 432
position of stopcodon in wt / mu cDNA 1296 / 1296
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 1 / 1
chromosome 10
strand 1
last intron/exon boundary 1204
theoretical NMD boundary in CDS 1153
length of CDS 1296
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 710
gDNA position
(for ins/del: last normal base / first normal base)		 65747
chromosomal position
(for ins/del: last normal base / first normal base)		 82363404
original gDNA sequence snippet CGCCCGGGACGAGTACCGACACCACTCGCTCCGTGCTATCC
altered gDNA sequence snippet CGCCCGGGACGAGTACCGACGCCACTCGCTCCGTGCTATCC
original cDNA sequence snippet CGCCCGGGACGAGTACCGACACCACTCGCTCCGTGCTATCC
altered cDNA sequence snippet CGCCCGGGACGAGTACCGACGCCACTCGCTCCGTGCTATCC
wildtype AA sequence MLQQILHDMY IDPELLAELS DVQKHILFYK MREEQLRRWK ERETWEALAQ DEGLRPPKTK
RASDKHIQWL LGADGEVWVW IMGEGPGDKP YEEISEELIA ERARLQAQRE AEELWRQKEA
EITKKFRDAL ANEKARILAE KWKVEMEDRK AAKVLEERIH EEFKRKEEEE RKRGEEQIRL
QEEQRAKELY WTLKQAQLHC QASEKEEREW EEQLRRSKAA DEERSRRAQR ARDEYRHHSL
RAIQKGTVAG LSSMFRELGQ SHEQEARLYH HLPDPGLPQP LALPVRTWER PLRPVSRDVI
VRWFKEEQLP RRAGFERNTK FIAPWFHGII SREDAEALLE NMTEGAFLVR VSEKIWGYTL
SYRLQKGFKH FLVDASGDFY SFLGVDPNRH ATLTDLVDFH KEEIITVSGG ELLQEPCGQR
DSPPDYHLLF E*
mutated AA sequence MLQQILHDMY IDPELLAELS DVQKHILFYK MREEQLRRWK ERETWEALAQ DEGLRPPKTK
RASDKHIQWL LGADGEVWVW IMGEGPGDKP YEEISEELIA ERARLQAQRE AEELWRQKEA
EITKKFRDAL ANEKARILAE KWKVEMEDRK AAKVLEERIH EEFKRKEEEE RKRGEEQIRL
QEEQRAKELY WTLKQAQLHC QASEKEEREW EEQLRRSKAA DEERSRRAQR ARDEYRRHSL
RAIQKGTVAG LSSMFRELGQ SHEQEARLYH HLPDPGLPQP LALPVRTWER PLRPVSRDVI
VRWFKEEQLP RRAGFERNTK FIAPWFHGII SREDAEALLE NMTEGAFLVR VSEKIWGYTL
SYRLQKGFKH FLVDASGDFY SFLGVDPNRH ATLTDLVDFH KEEIITVSGG ELLQEPCGQR
DSPPDYHLLF E*
speed 1.37 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