mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999754448821879 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:114454544T>CN/A show variant in all transcripts IGV

HGNC symbol

SHOC1

Ensembl transcript ID

ENST00000394777

Genbank transcript ID

N/A

UniProt peptide

Q5VXU9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3299A>G
cDNA.3544A>G
g.102745A>G

AA changes

E1100G Score: 98 explain score(s)

position(s) of altered AA
if AA alteration in CDS

1100

frameshift

known variant

Reference ID: rs7869279

database	homozygous (C/C)	heterozygous	allele carriers
1000G	709	1071	1780
ExAC	15213	2341	17554

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.002	0.648
	1.629	0.605
(flanking)	0.176	0.111

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

248

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1100

mutated

not conserved

1100

Ptroglodytes

all identical

ENSPTRG00000021260

1174

Mmulatta

all identical

ENSMMUG00000023307

1238

Fcatus

no alignment

ENSFCAG00000004341

n/a

Mmusculus

not conserved

ENSMUSG00000038598

1222

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4113 / 4113

position (AA) of stopcodon in wt / mu AA sequence

1371 / 1371

position of stopcodon in wt / mu cDNA

4358 / 4358

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

246 / 246

chromosome

strand

-1

last intron/exon boundary

4258

theoretical NMD boundary in CDS

3962

length of CDS

4113

coding sequence (CDS) position

3299

cDNA position
(for ins/del: last normal base / first normal base)

3544

gDNA position
(for ins/del: last normal base / first normal base)

102745

chromosomal position
(for ins/del: last normal base / first normal base)

114454544

original gDNA sequence snippet

TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC

altered gDNA sequence snippet

TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC

original cDNA sequence snippet

TTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCAC

altered cDNA sequence snippet

TTCCATTATGGAACTAAAAGGAATCTCAAGTTTTTTACCAC

wildtype AA sequence

MSETLGDELE ILRGKMMQRR PRSAEVKYFY FFKILLRLRL AILKYLFIDD KGILFVSSRK
HLPTLPTLLS RLKLFLVKDP LLDFKGQIFT EANFSRECFS LQETLEAFVK EDFCMDKVNF
CQEKLEDTIC LNEPSSFLIE YEFLIPPSLK PEIDIPSLSE LKELLNPVPE IINYVDEKEK
LFERDLTNKH GIEDIGDIKF SSTEILTIQS QSEPEECSKP GELEMPLTPL FLTCQHSSVN
SLRTELQTFP LSPVCKINLL TAEESANEYY MMWQLERCRS PLNPFLLTVP RIQEPHSQYS
VTDLKKIFSV KEESLVINLE KAEWWKQAGL NLKMMETLEH LNTYLCHDNL SSNDTKIEIF
LPTKVLQLES CLEHKSHSSP IALIDEKSTN AHLSLPQKSP SLAKEVPDLC FSDDYFSDKG
AAKEEKPKND QEPVNRIIQK KENNDHFELD CTGPSIKSPS SSIIKKASFE HGKKQENDLD
LLSDFIMLRN KYKTCTSKTE VTNSDEKHDK EACSLTLQEE SPIVHINKTL EEINQERGTD
SVIEIQASDS QCQAFCLLEA AASPILKNLV SLCTLPTANW KFATVIFDQT RFLLKEQEKV
VSDAVRQGYL SKAKDIYNSI LGPYLGDIWR QLEIVQFIRG KKPETNYKIQ ELQCQILSWM
QSQQQIKVLI IIRMDSDGEK HFLIKILNKI EGLTLTVLHS NERKDFLESE GVLRGTSSCV
VVHNQYIGAD FPWSNFSFVV EYNYVEDSCW TKHCKELNIP YMAFKVILPD TVLERSTLLD
RFGGFLLEIQ IPYVFFASEG LLNTPDILQL LESNYNISLV ERGCSESLKL FGSSECYVVV
TIDEHTAIIL QDLEELNYEK ASDNIIMRLM ALSLQYRYCW IILYTKETLN SEYLLTEKTL
HHLALIYAAL VSFGLNSEEL DVKLIIAPGV EATALIIRQI ADHSLMTSKR DPHEWLDKSW
LKVSPSEEEM YLLDFPCINP LVAQLMLNKG PSLHWILLAT LCQLQELLPE VPEKVLKHFC
SITSLFKIGS SSITKSPQIS SPQENRNQIS TLSSQSSASD LDSVIQEHNE YYQYLGLGET
VQEDKTTILN DNSSIMELKE ISSFLPPVTS YNQTSYWKDS SCKSNIGQNT PFLINIESRR
PAYNSFLNHS DSESDVFSLG LTQMNCETIK SPTDTQKRVS VVPRFINSQK RRTHEAKGFI
NKDVSDPIFS LEGTQSPLHW NFKKNIWEQE NHPFNLQYGA QQTACNKLYS QKGNLFTDQQ
KCLSDESEGL TCESSKDETF WRELPSVPSL DLFRASDSNA NQKEFNSLYF YQRAGKSLGQ
KRHHESSFNS GDKESLTGFM CSQLPQFKKR RLAYEKVPGR VDGQTRLRFF *

mutated AA sequence

MSETLGDELE ILRGKMMQRR PRSAEVKYFY FFKILLRLRL AILKYLFIDD KGILFVSSRK
HLPTLPTLLS RLKLFLVKDP LLDFKGQIFT EANFSRECFS LQETLEAFVK EDFCMDKVNF
CQEKLEDTIC LNEPSSFLIE YEFLIPPSLK PEIDIPSLSE LKELLNPVPE IINYVDEKEK
LFERDLTNKH GIEDIGDIKF SSTEILTIQS QSEPEECSKP GELEMPLTPL FLTCQHSSVN
SLRTELQTFP LSPVCKINLL TAEESANEYY MMWQLERCRS PLNPFLLTVP RIQEPHSQYS
VTDLKKIFSV KEESLVINLE KAEWWKQAGL NLKMMETLEH LNTYLCHDNL SSNDTKIEIF
LPTKVLQLES CLEHKSHSSP IALIDEKSTN AHLSLPQKSP SLAKEVPDLC FSDDYFSDKG
AAKEEKPKND QEPVNRIIQK KENNDHFELD CTGPSIKSPS SSIIKKASFE HGKKQENDLD
LLSDFIMLRN KYKTCTSKTE VTNSDEKHDK EACSLTLQEE SPIVHINKTL EEINQERGTD
SVIEIQASDS QCQAFCLLEA AASPILKNLV SLCTLPTANW KFATVIFDQT RFLLKEQEKV
VSDAVRQGYL SKAKDIYNSI LGPYLGDIWR QLEIVQFIRG KKPETNYKIQ ELQCQILSWM
QSQQQIKVLI IIRMDSDGEK HFLIKILNKI EGLTLTVLHS NERKDFLESE GVLRGTSSCV
VVHNQYIGAD FPWSNFSFVV EYNYVEDSCW TKHCKELNIP YMAFKVILPD TVLERSTLLD
RFGGFLLEIQ IPYVFFASEG LLNTPDILQL LESNYNISLV ERGCSESLKL FGSSECYVVV
TIDEHTAIIL QDLEELNYEK ASDNIIMRLM ALSLQYRYCW IILYTKETLN SEYLLTEKTL
HHLALIYAAL VSFGLNSEEL DVKLIIAPGV EATALIIRQI ADHSLMTSKR DPHEWLDKSW
LKVSPSEEEM YLLDFPCINP LVAQLMLNKG PSLHWILLAT LCQLQELLPE VPEKVLKHFC
SITSLFKIGS SSITKSPQIS SPQENRNQIS TLSSQSSASD LDSVIQEHNE YYQYLGLGET
VQEDKTTILN DNSSIMELKG ISSFLPPVTS YNQTSYWKDS SCKSNIGQNT PFLINIESRR
PAYNSFLNHS DSESDVFSLG LTQMNCETIK SPTDTQKRVS VVPRFINSQK RRTHEAKGFI
NKDVSDPIFS LEGTQSPLHW NFKKNIWEQE NHPFNLQYGA QQTACNKLYS QKGNLFTDQQ
KCLSDESEGL TCESSKDETF WRELPSVPSL DLFRASDSNA NQKEFNSLYF YQRAGKSLGQ
KRHHESSFNS GDKESLTGFM CSQLPQFKKR RLAYEKVPGR VDGQTRLRFF *

speed

1.00 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