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: ENST00000369250
MT speed 0 s - this script 3.386859 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FAM160B1	polymorphism_automatic	8.40438829641244e-14	simple_aae		affected		T733A	single base exchange	rs10885629		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999916 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:116659253A>GN/A show variant in all transcripts IGV

HGNC symbol

FAM160B1

Ensembl transcript ID

ENST00000369250

Genbank transcript ID

NM_001135051

UniProt peptide

Q5W0V3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2197A>G
cDNA.2532A>G
g.77751A>G

AA changes

T733A Score: 58 explain score(s)

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

733

frameshift

known variant

Reference ID: rs10885629

database	homozygous (G/G)	heterozygous	allele carriers
1000G	903	1040	1943
ExAC	3535	5060	8595

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.786	0
	-0.114	0
(flanking)	1.218	0.001

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
Acc marginally decreased	77746	wt: 0.9936 / mu: 0.9932 (marginal change - not scored)	wt: TCTTCTTTCTTTTATCCTCAGGCAGACGTTGCCTTCATGGT mu: TCTTCTTTCTTTTATCCTCAGGCAGGCGTTGCCTTCATGGT	tcag\|GCAG
Acc increased	77750	wt: 0.32 / mu: 0.65	wt: CTTTCTTTTATCCTCAGGCAGACGTTGCCTTCATGGTGGTA mu: CTTTCTTTTATCCTCAGGCAGGCGTTGCCTTCATGGTGGTA	gcag\|ACGT
Acc marginally increased	77742	wt: 0.9946 / mu: 0.9951 (marginal change - not scored)	wt: CTGATCTTCTTTCTTTTATCCTCAGGCAGACGTTGCCTTCA mu: CTGATCTTCTTTCTTTTATCCTCAGGCAGGCGTTGCCTTCA	atcc\|TCAG
Acc increased	77747	wt: 0.50 / mu: 0.64	wt: CTTCTTTCTTTTATCCTCAGGCAGACGTTGCCTTCATGGTG mu: CTTCTTTCTTTTATCCTCAGGCAGGCGTTGCCTTCATGGTG	cagg\|CAGA
Acc marginally increased	77741	wt: 0.9740 / mu: 0.9786 (marginal change - not scored)	wt: CCTGATCTTCTTTCTTTTATCCTCAGGCAGACGTTGCCTTC mu: CCTGATCTTCTTTCTTTTATCCTCAGGCAGGCGTTGCCTTC	tatc\|CTCA
Acc marginally increased	77744	wt: 0.9698 / mu: 0.9749 (marginal change - not scored)	wt: GATCTTCTTTCTTTTATCCTCAGGCAGACGTTGCCTTCATG mu: GATCTTCTTTCTTTTATCCTCAGGCAGGCGTTGCCTTCATG	cctc\|AGGC
Acc marginally increased	77743	wt: 0.9130 / mu: 0.9501 (marginal change - not scored)	wt: TGATCTTCTTTCTTTTATCCTCAGGCAGACGTTGCCTTCAT mu: TGATCTTCTTTCTTTTATCCTCAGGCAGGCGTTGCCTTCAT	tcct\|CAGG
Donor marginally increased	77745	wt: 0.8850 / mu: 0.9731 (marginal change - not scored)	wt: TCCTCAGGCAGACGT mu: TCCTCAGGCAGGCGT	CTCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

733

mutated

not conserved

733

Ptroglodytes

no alignment

ENSPTRG00000002963

n/a

Mmulatta

no alignment

ENSMMUG00000015414

n/a

Fcatus

no alignment

ENSFCAG00000003120

n/a

Mmusculus

no alignment

ENSMUSG00000033478

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000060168

n/a

Dmelanogaster

no alignment

FBgn0025681

n/a

Celegans

no alignment

C05D11.8

n/a

Xtropicalis

no alignment

ENSXETG00000023831

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2217 / 2217

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

739 / 739

position of stopcodon in wt / mu cDNA

2552 / 2552

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

336 / 336

chromosome

strand

last intron/exon boundary

2528

theoretical NMD boundary in CDS

2142

length of CDS

2217

coding sequence (CDS) position

2197

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

2532

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

77751

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

116659253

original gDNA sequence snippet

TTTCTTTTATCCTCAGGCAGACGTTGCCTTCATGGTGGTAA

altered gDNA sequence snippet

TTTCTTTTATCCTCAGGCAGGCGTTGCCTTCATGGTGGTAA

original cDNA sequence snippet

AACCTGAAGGCCCTATGCAGACGTTGCCTTCATGGTGGTAA

altered cDNA sequence snippet

AACCTGAAGGCCCTATGCAGGCGTTGCCTTCATGGTGGTAA

wildtype AA sequence

MFSKFTSILQ HAVEALAPSL PLQEDFVYHW KAITHYYIET SDDKAPVTDT NIPSHLEQML
DILVQEENER ESGETGPCME YLLHHKILET LYTLGKADCP PGMKQQVLVF YTKLLGRIRQ
PLLPHINVHR PVQKLIRLCG EVLATPTENE EIQFLCIVCA KLKQDPYLVN FFLENKMKSL
ASKGVPNVIS EDTLKGQDSL STDTGQSRQP EELSGATGME QTELEDEPPH QMDHLSTSLD
NLSVTSLPEA SVVCPNQDYN LVNSLLNLTR SPDGRIAVKA CEGLMLLVSL PEPAAAKCLT
QSTCLCELLT DRLASLYKAL PQSVDPLDIE TVEAINWGLD SYSHKEDASA FPGKRALISF
LSWFDYCDQL IKEAQKTAAV ALAKAVHERF FIGVMEPQLM QTSEMGILTS TALLHRIVRQ
VTSDVLLQEM VFFILGEQRE PETLAEISRH PLRHRLIEHC DHISDEISIM TLRMFEHLLQ
KPNEHILYNL VLRNLEERNY TEYKPLCPED KDVVENGLIA GAVDLEEDPL FTDISPENTL
PNQEWLSSSP PATPDHPKND GKTEVHKIVN SFLCLVPDDA KSSYHVEGTG YDTYLRDAHR
QFRDYCAICL RWEWPGSPKA LEKCNLEAAF FEGHFLKVLF DRMGRILDQP YDVNLQVTSV
LSRLSLFPHP HIHEYLLDPY VNLAPGCRSL FSVIVRVVGD LMLRIQRIQD FTPKLLLVRK
RLLGLEPEGP MQTLPSWW*

mutated AA sequence

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
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems