MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000375001
MT speed 0 s - this script 3.095965 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
COL15A1	polymorphism_automatic	1.32095189597781e-06	simple_aae				M204V	single base exchange	rs2075663		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998679048104 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:101748356A>GN/A show variant in all transcripts IGV

HGNC symbol

COL15A1

Ensembl transcript ID

ENST00000375001

Genbank transcript ID

NM_001855

UniProt peptide

P39059

alteration type

single base exchange

alteration region

CDS

DNA changes

c.610A>G
cDNA.1033A>G
g.42896A>G

AA changes

M204V Score: 21 explain score(s)

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

204

frameshift

known variant

Reference ID: rs2075663

database	homozygous (G/G)	heterozygous	allele carriers
1000G	939	1141	2080
ExAC	13968	4831	18799

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.102	0.997
	2.164	1
(flanking)	4.544	1

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

204

mutated

all conserved

204

Ptroglodytes

all conserved

ENSPTRG00000029189

204

Mmulatta

all conserved

ENSMMUG00000011582

204

Fcatus

all conserved

ENSFCAG00000012233

134

Mmusculus

all conserved

ENSMUSG00000028339

204

Ggallus

all conserved

ENSGALG00000012616

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0260660

n/a

Celegans

no alignment

C36B1.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
66	249	DOMAIN	Laminin G-like.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4167 / 4167

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

1389 / 1389

position of stopcodon in wt / mu cDNA

4590 / 4590

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

424 / 424

chromosome

strand

last intron/exon boundary

4377

theoretical NMD boundary in CDS

3903

length of CDS

4167

coding sequence (CDS) position

610

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

1033

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

42896

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

101748356

original gDNA sequence snippet

AGTCCAGCGCTGGAATCTTCATGGGCAATGCAGGAGCTACA

altered gDNA sequence snippet

AGTCCAGCGCTGGAATCTTCGTGGGCAATGCAGGAGCTACA

original cDNA sequence snippet

AGTCCAGCGCTGGAATCTTCATGGGCAATGCAGGAGCTACA

altered cDNA sequence snippet

AGTCCAGCGCTGGAATCTTCGTGGGCAATGCAGGAGCTACA

wildtype AA sequence

MAPRRNNGQC WCLLMLLSVS TPLPAVTQTR GATETASQGH LDLTQLIGVP LPSSVSFVTG
YGGFPAYSFG PGANVGRPAR TLIPSTFFRD FAISVVVKPS STRGGVLFAI TDAFQKVIYL
GLRLSGVEDG HQRIILYYTE PGSHVSQEAA AFSVPVMTHR WNRFAMIVQG EEVTLLVNCE
EHSRIPFQRS SQALAFESSA GIFMGNAGAT GLERFTGSLQ QLTVHPDPRT PEELCDPEES
SASGETSGLQ EADGVAEILE AVTYTQASPK EAKVEPINTP PTPSSPFEDM ELSGEPVPEG
TLETTNMSII QHSSPKQGSG EILNDTLEGV HSVDGDPITD SGSGAGAFLD IAEEKNLAAT
AAGLAEVPIS TAGEAEASSV PTGGPTLSMS TENPEEGVTP GPDNEERLAA TAAGEAEALA
SMPGEVEASG VAPGELDLSM SAQSLGEEAT VGPSSEDSLT TAAAATEVSL STFEDEEASG
VPTDGLAPLT ATMAPERAVT SGPGDEEDLA AATTEEPLIT AGGEESGSPP PDGPPLPLPT
VAPERWITPA QREHVGMKGQ AGPKGEKGDA GEELPGPPEP SGPVGPTAGA EAEGSGLGWG
SDVGSGSGDL VGSEQLLRGP PGPPGPPGLP GIPGKPGTDV FMGPPGSPGE DGPAGEPGPP
GPEGQPGVDG ATGLPGMKGE KGARGPNGSV GEKGDPGNRG LPGPPGKKGQ AGPPGVMGPP
GPPGPPGPPG PGCTMGLGFE DTEGSGSTQL LNEPKLSRPT AAIGLKGEKG DRGPKGERGM
DGASIVGPPG PRGPPGHIKV LSNSLINITH GFMNFSDIPE LVGPPGPDGL PGLPGFPGPR
GPKGDTGLPG FPGLKGEQGE KGEPGAILTE DIPLERLMGK KGEPGMHGAP GPMGPKGPPG
HKGEFGLPGR PGRPGLNGLK GTKGDPGVIM QGPPGLPGPP GPPGPPGAVI NIKGAIFPIP
VRPHCKMPVD TAHPGSPELI TFHGVKGEKG SWGLPGSKGE KGDQGAQGPP GPPLDLAYLR
HFLNNLKGEN GDKGFKGEKG EKGDINGSFL MSGPPGLPGN PGPAGQKGET VVGPQGPPGA
PGLPGPPGFG RPGDPGPPGP PGPPGPPAIL GAAVALPGPP GPPGQPGLPG SRNLVTAFSN
MDDMLQKAHL VIEGTFIYLR DSTEFFIRVR DGWKKLQLGE LIPIPADSPP PPALSSNPHQ
LLPPPNPISS ANYEKPALHL AALNMPFSGD IRADFQCFKQ ARAAGLLSTY RAFLSSHLQD
LSTIVRKAER YSLPIVNLKG QVLFNNWDSI FSGHGGQFNM HIPIYSFDGR DIMTDPSWPQ
KVIWHGSSPH GVRLVDNYCE AWRTADTAVT GLASPLSTGK ILDQKAYSCA NRLIVLCIEN
SFMTDARK*

mutated AA sequence

MAPRRNNGQC WCLLMLLSVS TPLPAVTQTR GATETASQGH LDLTQLIGVP LPSSVSFVTG
YGGFPAYSFG PGANVGRPAR TLIPSTFFRD FAISVVVKPS STRGGVLFAI TDAFQKVIYL
GLRLSGVEDG HQRIILYYTE PGSHVSQEAA AFSVPVMTHR WNRFAMIVQG EEVTLLVNCE
EHSRIPFQRS SQALAFESSA GIFVGNAGAT GLERFTGSLQ QLTVHPDPRT PEELCDPEES
SASGETSGLQ EADGVAEILE AVTYTQASPK EAKVEPINTP PTPSSPFEDM ELSGEPVPEG
TLETTNMSII QHSSPKQGSG EILNDTLEGV HSVDGDPITD SGSGAGAFLD IAEEKNLAAT
AAGLAEVPIS TAGEAEASSV PTGGPTLSMS TENPEEGVTP GPDNEERLAA TAAGEAEALA
SMPGEVEASG VAPGELDLSM SAQSLGEEAT VGPSSEDSLT TAAAATEVSL STFEDEEASG
VPTDGLAPLT ATMAPERAVT SGPGDEEDLA AATTEEPLIT AGGEESGSPP PDGPPLPLPT
VAPERWITPA QREHVGMKGQ AGPKGEKGDA GEELPGPPEP SGPVGPTAGA EAEGSGLGWG
SDVGSGSGDL VGSEQLLRGP PGPPGPPGLP GIPGKPGTDV FMGPPGSPGE DGPAGEPGPP
GPEGQPGVDG ATGLPGMKGE KGARGPNGSV GEKGDPGNRG LPGPPGKKGQ AGPPGVMGPP
GPPGPPGPPG PGCTMGLGFE DTEGSGSTQL LNEPKLSRPT AAIGLKGEKG DRGPKGERGM
DGASIVGPPG PRGPPGHIKV LSNSLINITH GFMNFSDIPE LVGPPGPDGL PGLPGFPGPR
GPKGDTGLPG FPGLKGEQGE KGEPGAILTE DIPLERLMGK KGEPGMHGAP GPMGPKGPPG
HKGEFGLPGR PGRPGLNGLK GTKGDPGVIM QGPPGLPGPP GPPGPPGAVI NIKGAIFPIP
VRPHCKMPVD TAHPGSPELI TFHGVKGEKG SWGLPGSKGE KGDQGAQGPP GPPLDLAYLR
HFLNNLKGEN GDKGFKGEKG EKGDINGSFL MSGPPGLPGN PGPAGQKGET VVGPQGPPGA
PGLPGPPGFG RPGDPGPPGP PGPPGPPAIL GAAVALPGPP GPPGQPGLPG SRNLVTAFSN
MDDMLQKAHL VIEGTFIYLR DSTEFFIRVR DGWKKLQLGE LIPIPADSPP PPALSSNPHQ
LLPPPNPISS ANYEKPALHL AALNMPFSGD IRADFQCFKQ ARAAGLLSTY RAFLSSHLQD
LSTIVRKAER YSLPIVNLKG QVLFNNWDSI FSGHGGQFNM HIPIYSFDGR DIMTDPSWPQ
KVIWHGSSPH GVRLVDNYCE AWRTADTAVT GLASPLSTGK ILDQKAYSCA NRLIVLCIEN
SFMTDARK*

speed

1.04 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
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems