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: ENST00000394650
MT speed 0.78 s - this script 2.881263 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MCUB	polymorphism_automatic	1.05404573957912e-12	simple_aae		affected		I63N	single base exchange	rs4698744		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998946 (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)

chr4:110581363T>AN/A show variant in all transcripts IGV

HGNC symbol

MCUB

Ensembl transcript ID

ENST00000394650

Genbank transcript ID

NM_017918

UniProt peptide

Q9NWR8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.188T>A
cDNA.321T>A
g.100003T>A

AA changes

I63N Score: 194 explain score(s)

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

frameshift

known variant

Reference ID: rs4698744

database	homozygous (A/A)	heterozygous	allele carriers
1000G	267	943	1210
ExAC	4251	19002	23253

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.317	0.007
	-0.854	0.004
(flanking)	0.124	0.128

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	100008	wt: 0.9873 / mu: 0.9964 (marginal change - not scored)	wt: TTTATAGACATGGCC mu: ATTATAGACATGGCC	TATA\|gaca
Donor marginally increased	99998	wt: 0.9164 / mu: 0.9970 (marginal change - not scored)	wt: ATAACAGTTATTTAT mu: ATAACAGTTAATTAT	AACA\|gtta
Donor gained	100003	0.48	mu: AGTTAATTATAGACA	TTAA\|ttat

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000016360

Mmulatta

no alignment

ENSMMUG00000008171

n/a

Fcatus

no alignment

ENSFCAG00000018997

n/a

Mmusculus

not conserved

ENSMUSG00000027994

Ggallus

not conserved

ENSGALG00000012196

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0042185

168

Celegans

not conserved

K02B2.3

Xtropicalis

not conserved

ENSXETG00000021086

protein features

start (aa)	end (aa)	feature	details
179	210	COILED	Potential.	might get lost (downstream of altered splice site)
191	191	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
193	193	CONFLICT	D -> G (in Ref. 4; CAG33515).	might get lost (downstream of altered splice site)
214	214	CONFLICT	E -> G (in Ref. 4; CAG33515).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
250	270	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
297	323	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1011 / 1011

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

337 / 337

position of stopcodon in wt / mu cDNA

1144 / 1144

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

134 / 134

chromosome

strand

last intron/exon boundary

1067

theoretical NMD boundary in CDS

883

length of CDS

1011

coding sequence (CDS) position

188

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

321

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

100003

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

110581363

original gDNA sequence snippet

CTTAACAGAAATAACAGTTATTTATAGACATGGCCTTCCCT

altered gDNA sequence snippet

CTTAACAGAAATAACAGTTAATTATAGACATGGCCTTCCCT

original cDNA sequence snippet

ACCTGATGAAATAACAGTTATTTATAGACATGGCCTTCCCT

altered cDNA sequence snippet

ACCTGATGAAATAACAGTTAATTATAGACATGGCCTTCCCT

wildtype AA sequence

MLQRGLWPWR TRLLPTPGTW RPARPWPLPP PPQVLRVKLC GNVKYYQSHH YSTVVPPDEI
TVIYRHGLPL VTLTLPSRKE RCQFVVKPML STVGSFLQDL QNEDKGIKTA AIFTADGNMI
SASTLMDILL MNDFKLVINK IAYDVQCPKR EKPSNEHTAE MEHMKSLVHR LFTILHLEES
QKKREHHLLE KIDHLKEQLQ PLEQVKAGIE AHSEAKTSGL LWAGLALLSI QGGALAWLTW
WVYSWDIMEP VTYFITFANS MVFFAYFIVT RQDYTYSAVK SRQFLQFFHK KSKQQHFDVQ
QYNKLKEDLA KAKESLKQAR HSLCLQMQVE ELNEKN*

mutated AA sequence

MLQRGLWPWR TRLLPTPGTW RPARPWPLPP PPQVLRVKLC GNVKYYQSHH YSTVVPPDEI
TVNYRHGLPL VTLTLPSRKE RCQFVVKPML STVGSFLQDL QNEDKGIKTA AIFTADGNMI
SASTLMDILL MNDFKLVINK IAYDVQCPKR EKPSNEHTAE MEHMKSLVHR LFTILHLEES
QKKREHHLLE KIDHLKEQLQ PLEQVKAGIE AHSEAKTSGL LWAGLALLSI QGGALAWLTW
WVYSWDIMEP VTYFITFANS MVFFAYFIVT RQDYTYSAVK SRQFLQFFHK KSKQQHFDVQ
QYNKLKEDLA KAKESLKQAR HSLCLQMQVE ELNEKN*

speed

0.78 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