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: ENST00000378788
MT speed 0 s - this script 3.428622 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FAM205A	polymorphism_automatic	1.25000010342546e-12	simple_aae		affected		A1165S	single base exchange	rs4878588		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999875 (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)

chr9:34723744C>AN/A show variant in all transcripts IGV

HGNC symbol

FAM205A

Ensembl transcript ID

ENST00000378788

Genbank transcript ID

NM_001141917

UniProt peptide

Q6ZU69

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3493G>T
cDNA.3533G>T
g.5721G>T

AA changes

A1165S Score: 99 explain score(s)

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

1165

frameshift

known variant

Reference ID: rs4878588

database	homozygous (A/A)	heterozygous	allele carriers
1000G	526	958	1484
ExAC	2518	4979	7497

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.317	0
	-0.586	0
(flanking)	0.583	0

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 increased	5729	wt: 0.66 / mu: 0.89	wt: GTGTTGCCCCAGGCTTCACAGGGTCAGCCTTTCCTGAGCCA mu: GTGTTGCCCCAGTCTTCACAGGGTCAGCCTTTCCTGAGCCA	acag\|GGTC
Acc increased	5719	wt: 0.27 / mu: 0.50	wt: TGCCCAGACTGTGTTGCCCCAGGCTTCACAGGGTCAGCCTT mu: TGCCCAGACTGTGTTGCCCCAGTCTTCACAGGGTCAGCCTT	ccca\|GGCT

distance from splice site

693

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1165

mutated

all conserved

1165

Ptroglodytes

all identical

ENSPTRG00000029283

1165

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000078722

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1165	1165	CONFLICT	A -> S (in Ref. 1; BAC86357).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4008 / 4008

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

1336 / 1336

position of stopcodon in wt / mu cDNA

4048 / 4048

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

41 / 41

chromosome

strand

-1

last intron/exon boundary

292

theoretical NMD boundary in CDS

201

length of CDS

4008

coding sequence (CDS) position

3493

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

3533

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

5721

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

34723744

original gDNA sequence snippet

CCCAGACTGTGTTGCCCCAGGCTTCACAGGGTCAGCCTTTC

altered gDNA sequence snippet

CCCAGACTGTGTTGCCCCAGTCTTCACAGGGTCAGCCTTTC

original cDNA sequence snippet

CCCAGACTGTGTTGCCCCAGGCTTCACAGGGTCAGCCTTTC

altered cDNA sequence snippet

CCCAGACTGTGTTGCCCCAGTCTTCACAGGGTCAGCCTTTC

wildtype AA sequence

MLSPTFVLWE VGYPLYIYGS IFIVIVIIWQ VKRSHHELSS EPKRSCCRCH QKVRQRARDA
ASTARRRSRE EAEKPQKLLS IIKSQGWLPL ERSVRRILCA DPCCQICNSV ALEIQQLLVG
ENNQISLTLS GPLQGSSCLE MLSTSSMSLD QSLEFHSWHT RELSLSSVTP TLSQLTDQKS
LTQSAAQSTY ADGIQDYWAD HLQLGQEFQV PDVLRGPNTI ASSRIEKPRA PLNQEEMTQS
NPSLVQGNQG QHHLNSQVSL LSLNPETLNR MHPMALHMVL PAHLPFLSPE VLRLLEVHVK
KWMHFQRWGL PRRVEESLRQ LMPNPPLYYQ PGNDQPVSFN LKNTPQVSLH RFETISLQTW
CSCVAGQPIQ TFWVSEWSTM NPEQRHHCQQ TPNPMALALP SPALKALSGP HPQSGGQDND
SGSDLQQKYS QLFCGLPSLH SESLVATFMG SQGLPKIENV PKPPLKDPFL FNELSFPQLL
PKTSPQSAPP SSPLSPNWMS PSDHQRAQIN VPFLTLAEYE ALEWHLLQRQ LQLQWGWPAA
LQRSQHTQCL MQHEPCGKAQ SPETTTASQT GKSISVLTRE LLFFPEHARK LLEFHIQKQL
IRHRWGLPQK IQQSIQLLLT STDQQTVSSS STALANVSIP QPVALEANGA CDVLSPIAAP
VSIPRPHLLT QVKAILQSHI DSKCGQIHQG KIPACVHRSW DCRISGVLAV APFPCIPESQ
FLELQTASDP DLHHKVMPWM PTALDQQQQA LPGTVTEHPK LLRVLSVEAI EKLETTLRHK
HLAFLSGLPA LYYVALPRAL APAVTSQSVI TEMEPSPVEI PAEPLIQMVS FEEQCISLGP
CPQGNNESCT DVAKEFQPAV PVKGTMETLP LESQTHPTSP HSLQTHILTK LNFHLRKKVL
EIQWGIPIRA RKSREQTVAA PENISTQKSL ESLNHQGETL LQELPIPPDT LPAPNPEGVH
LKEQLANDLK AVQQNQKQSN SKAVPQGSAH SVSKISQPSG DMTEAHMPCV QVEANVNKPS
LEEPCGPEPQ SPSKSKDPAH VPMLAGNRED PEETKAARDH REGDAGFGRS STREERRPAE
DQRPAGMLPN KTPRGSWRWS RSFHLADPCQ HSPQHHPQLK LPQLPPRVPG EKESEKDLQD
SQTKLTVILE PATIPENAQT VLPQASQGQP FLSQPTQAKP LQGQTLQGQV LHGLVMPVHA
QKKPSLTESS FRNKIKCFLQ HINPKTKGKG HEDSMFSAAA KVAKTRKENV AKSLAPAKSP
VGRSKTEKPT GCSKAQSRPA QKLVGPAFLD GPQSLDDKLR LHSRQPGSAS ALGYPRHCPR
HCPREACANK PGHPT*

mutated AA sequence

MLSPTFVLWE VGYPLYIYGS IFIVIVIIWQ VKRSHHELSS EPKRSCCRCH QKVRQRARDA
ASTARRRSRE EAEKPQKLLS IIKSQGWLPL ERSVRRILCA DPCCQICNSV ALEIQQLLVG
ENNQISLTLS GPLQGSSCLE MLSTSSMSLD QSLEFHSWHT RELSLSSVTP TLSQLTDQKS
LTQSAAQSTY ADGIQDYWAD HLQLGQEFQV PDVLRGPNTI ASSRIEKPRA PLNQEEMTQS
NPSLVQGNQG QHHLNSQVSL LSLNPETLNR MHPMALHMVL PAHLPFLSPE VLRLLEVHVK
KWMHFQRWGL PRRVEESLRQ LMPNPPLYYQ PGNDQPVSFN LKNTPQVSLH RFETISLQTW
CSCVAGQPIQ TFWVSEWSTM NPEQRHHCQQ TPNPMALALP SPALKALSGP HPQSGGQDND
SGSDLQQKYS QLFCGLPSLH SESLVATFMG SQGLPKIENV PKPPLKDPFL FNELSFPQLL
PKTSPQSAPP SSPLSPNWMS PSDHQRAQIN VPFLTLAEYE ALEWHLLQRQ LQLQWGWPAA
LQRSQHTQCL MQHEPCGKAQ SPETTTASQT GKSISVLTRE LLFFPEHARK LLEFHIQKQL
IRHRWGLPQK IQQSIQLLLT STDQQTVSSS STALANVSIP QPVALEANGA CDVLSPIAAP
VSIPRPHLLT QVKAILQSHI DSKCGQIHQG KIPACVHRSW DCRISGVLAV APFPCIPESQ
FLELQTASDP DLHHKVMPWM PTALDQQQQA LPGTVTEHPK LLRVLSVEAI EKLETTLRHK
HLAFLSGLPA LYYVALPRAL APAVTSQSVI TEMEPSPVEI PAEPLIQMVS FEEQCISLGP
CPQGNNESCT DVAKEFQPAV PVKGTMETLP LESQTHPTSP HSLQTHILTK LNFHLRKKVL
EIQWGIPIRA RKSREQTVAA PENISTQKSL ESLNHQGETL LQELPIPPDT LPAPNPEGVH
LKEQLANDLK AVQQNQKQSN SKAVPQGSAH SVSKISQPSG DMTEAHMPCV QVEANVNKPS
LEEPCGPEPQ SPSKSKDPAH VPMLAGNRED PEETKAARDH REGDAGFGRS STREERRPAE
DQRPAGMLPN KTPRGSWRWS RSFHLADPCQ HSPQHHPQLK LPQLPPRVPG EKESEKDLQD
SQTKLTVILE PATIPENAQT VLPQSSQGQP FLSQPTQAKP LQGQTLQGQV LHGLVMPVHA
QKKPSLTESS FRNKIKCFLQ HINPKTKGKG HEDSMFSAAA KVAKTRKENV AKSLAPAKSP
VGRSKTEKPT GCSKAQSRPA QKLVGPAFLD GPQSLDDKLR LHSRQPGSAS ALGYPRHCPR
HCPREACANK PGHPT*

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