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: ENST00000265018
MT speed 0 s - this script 2.978016 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FAM184B	polymorphism_automatic	4.78028394645946e-09	simple_aae		affected		R643H	single base exchange	rs1860596		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999995219716 (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)

chr4:17660082C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM184B

Ensembl transcript ID

ENST00000265018

Genbank transcript ID

NM_015688

UniProt peptide

Q9ULE4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1928G>A
cDNA.2141G>A
g.123054G>A

AA changes

R643H Score: 29 explain score(s)

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

643

frameshift

known variant

Reference ID: rs1860596

database	homozygous (T/T)	heterozygous	allele carriers
1000G	976	1075	2051
ExAC	3448	4647	8095

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.574	0
	-0.814	0.002
(flanking)	1.099	0.55

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 increased	123052	wt: 0.49 / mu: 0.75	wt: CTGCAGCGTGAGCTC mu: CTGCAGCATGAGCTC	GCAG\|cgtg

distance from splice site

104

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

643

mutated

not conserved

643

Ptroglodytes

all identical

ENSPTRG00000015940

643

Mmulatta

all identical

ENSMMUG00000018067

597

Fcatus

not conserved

ENSFCAG00000002835

654

Mmusculus

not conserved

ENSMUSG00000015879

553

Ggallus

not conserved

ENSGALG00000014479

464

KQL

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000055099

727

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
584	769	COILED	Potential.	lost
643	643	CONFLICT	R -> H (in Ref. 1; BAA86590).	lost
784	784	CONFLICT	R -> W (in Ref. 1; BAA86590).	might get lost (downstream of altered splice site)
806	934	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

3183 / 3183

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

1061 / 1061

position of stopcodon in wt / mu cDNA

3396 / 3396

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

214 / 214

chromosome

strand

-1

last intron/exon boundary

3303

theoretical NMD boundary in CDS

3039

length of CDS

3183

coding sequence (CDS) position

1928

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

2141

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

123054

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

17660082

original gDNA sequence snippet

GGAGAGGGAGAAGCTGCAGCGTGAGCTCCAGGAGACCACTC

altered gDNA sequence snippet

GGAGAGGGAGAAGCTGCAGCATGAGCTCCAGGAGACCACTC

original cDNA sequence snippet

GGAGAGGGAGAAGCTGCAGCGTGAGCTCCAGGAGACCACTC

altered cDNA sequence snippet

GGAGAGGGAGAAGCTGCAGCATGAGCTCCAGGAGACCACTC

wildtype AA sequence

MASALNSKIN PPGTCQGSKA DGGAGWRMDC DPQMHVKMCK KIAQLTKVIY ALNTRQDEAE
ASMEALREAH QEELQNAVAE TKARLLQEQG CAEEEALLQR IQALESALEL QKRLTEEALA
ESASCRLETK ERELRVEAEH AERVLTLSRE MLELKADYER RLQHLTSHEA TPQGRLPQES
PETKSEPGQG PEMQEVLLEV QRLRVENQQL SKDYARKAEE LQATYERENE AIRQAMQQSV
SQALWQWQEK ESDLRKNFQV QESALQAQVR KLEGDLEHRG RKISDLKKYA QKLKERIQDL
DVQLKEARQE NSELKGTAKK LGEKLAVAKD RMMLQECRGT QQTDAMKTEL VSENKVLREE
NDLEAGNLHP QQDQSCLKEC PCMKGGTDMQ TKKEASAETE YMKQQYEEDL RKIKHQTEEE
KKHLKDQLVK RLEDLVKKHT VEIKSVRSSV EAERKKLQRE VEAQLEEVRK KSEKEIKQLE
EEKAALNVKL QNSLLEVLRL EEFIQQNKTR PTGAEESPQE LGRQHCSILE TQDPCLKLDE
TSPRGEEYQD KLAAEEGTSS DEEERTKVLL KEGSDPQPPL GSLLKEKTSK IQRLEEDWQS
QKAKLQAQVS QMQQALEQCT SNYREDLQAL KQLSDLEREK LQRELQETTQ QNHAMKAQLE
ASHQRALRML EKARHQELKA TEERLKKESS HSLQIQHQTH RLELQALEEK ARQELQEERE
RMQAQQALLL ESLRQELSEQ QAACSGHQKD LEALQAELRA LGRQQASSQC PGDSKDHIIA
TEERGGPGQA GSPPGAAGQG SGEGCGLWEE NAQLQDAVRR LRAEVEQHQQ EAQKLRDQRR
FLEETQQAQR AREVETLRQE HRKEMQAMVA DFSSAQAQLQ ARLAALEAEL KDSGEKPGKG
ASRPEDLQLI GRLQTRLKER EDIIKQLTEE RRFHYAAFPS AMSHRNRSFS FNPHPGYLTP
SMKKKKVEDV PSRVVSVPNL ASYAKNFLSG DLSSRINAPP ITTSPSLDPS PSCGRTYKPN
QSTDAKTATR TPDGETAQAK EVQQKQGSPH QEWFTKYFSF *

mutated AA sequence

MASALNSKIN PPGTCQGSKA DGGAGWRMDC DPQMHVKMCK KIAQLTKVIY ALNTRQDEAE
ASMEALREAH QEELQNAVAE TKARLLQEQG CAEEEALLQR IQALESALEL QKRLTEEALA
ESASCRLETK ERELRVEAEH AERVLTLSRE MLELKADYER RLQHLTSHEA TPQGRLPQES
PETKSEPGQG PEMQEVLLEV QRLRVENQQL SKDYARKAEE LQATYERENE AIRQAMQQSV
SQALWQWQEK ESDLRKNFQV QESALQAQVR KLEGDLEHRG RKISDLKKYA QKLKERIQDL
DVQLKEARQE NSELKGTAKK LGEKLAVAKD RMMLQECRGT QQTDAMKTEL VSENKVLREE
NDLEAGNLHP QQDQSCLKEC PCMKGGTDMQ TKKEASAETE YMKQQYEEDL RKIKHQTEEE
KKHLKDQLVK RLEDLVKKHT VEIKSVRSSV EAERKKLQRE VEAQLEEVRK KSEKEIKQLE
EEKAALNVKL QNSLLEVLRL EEFIQQNKTR PTGAEESPQE LGRQHCSILE TQDPCLKLDE
TSPRGEEYQD KLAAEEGTSS DEEERTKVLL KEGSDPQPPL GSLLKEKTSK IQRLEEDWQS
QKAKLQAQVS QMQQALEQCT SNYREDLQAL KQLSDLEREK LQHELQETTQ QNHAMKAQLE
ASHQRALRML EKARHQELKA TEERLKKESS HSLQIQHQTH RLELQALEEK ARQELQEERE
RMQAQQALLL ESLRQELSEQ QAACSGHQKD LEALQAELRA LGRQQASSQC PGDSKDHIIA
TEERGGPGQA GSPPGAAGQG SGEGCGLWEE NAQLQDAVRR LRAEVEQHQQ EAQKLRDQRR
FLEETQQAQR AREVETLRQE HRKEMQAMVA DFSSAQAQLQ ARLAALEAEL KDSGEKPGKG
ASRPEDLQLI GRLQTRLKER EDIIKQLTEE RRFHYAAFPS AMSHRNRSFS FNPHPGYLTP
SMKKKKVEDV PSRVVSVPNL ASYAKNFLSG DLSSRINAPP ITTSPSLDPS PSCGRTYKPN
QSTDAKTATR TPDGETAQAK EVQQKQGSPH QEWFTKYFSF *

speed

0.92 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