Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999984889418745 (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 ENST00000313455
Genbank transcript ID NM_001145719
UniProt peptide Q5SQS7
alteration type single base exchange
alteration region CDS
DNA changes c.566A>G
cDNA.644A>G
g.65747A>G
AA changes H189R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
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      189RRAQRARDEYRHHSLRAIQKGTVA
mutated  not conserved    189QRARDEYRRHSLRAIQKGTV
Ptroglodytes  not conserved  ENSPTRG00000002687  237AQRARDEYRRHSLRAIQKGTV
Mmulatta  not conserved  ENSMMUG00000022098  237AQRARDEYRRHSLRAIQKGMV
Fcatus  not conserved  ENSFCAG00000000713  234RRHSLRAIQKGTV
Mmusculus  not conserved  ENSMUSG00000037833  237RRAQRARDEYRRHSLR
Ggallus  not conserved  ENSGALG00000002370  237HKARRARDEYRRQSLR
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000069374  231RKACWARDEYKRQSLRA
Dmelanogaster  no homologue    
Celegans  all identical  F13B12.6  331ELAQKARE--KHQQMIRTSESIL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
92223COMPBIASGlu-rich.lost
325417DOMAINSH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 930 / 930
position (AA) of stopcodon in wt / mu AA sequence 310 / 310
position of stopcodon in wt / mu cDNA 1008 / 1008
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 79 / 79
chromosome 10
strand 1
last intron/exon boundary 920
theoretical NMD boundary in CDS 791
length of CDS 930
coding sequence (CDS) position 566
cDNA position
(for ins/del: last normal base / first normal base)		 644
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 MLPEDSGGSP DAAASDKHIQ WLLGADGEVW VWIMGEGPGD KPYEEISEEL IAERARLQAQ
REAEELWRQK EAEITKKFRD ALANEKARIL AEKWKVEMED RKAAKVLEER IHEEFKRKEE
EERKRGEEQI RLQEEQRAKE LYWTLKQAQL HCQASEKEER EWEEQLRRSK AADEERSRRA
QRARDEYRHH SLRAIQKGTV AGLSSMFREL GQSHEQEARL YHHLPDPGLP QPLALPVSRT
WERPLRPVSR DVIVRWFKEE QLPRRAGFER NTKFIAPWFH GGNYHCFRRR VTSGTLRTEG
QPTRLPSVV*
mutated AA sequence MLPEDSGGSP DAAASDKHIQ WLLGADGEVW VWIMGEGPGD KPYEEISEEL IAERARLQAQ
REAEELWRQK EAEITKKFRD ALANEKARIL AEKWKVEMED RKAAKVLEER IHEEFKRKEE
EERKRGEEQI RLQEEQRAKE LYWTLKQAQL HCQASEKEER EWEEQLRRSK AADEERSRRA
QRARDEYRRH SLRAIQKGTV AGLSSMFREL GQSHEQEARL YHHLPDPGLP QPLALPVSRT
WERPLRPVSR DVIVRWFKEE QLPRRAGFER NTKFIAPWFH GGNYHCFRRR VTSGTLRTEG
QPTRLPSVV*
speed 1.23 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