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: ENST00000366971
MT speed 0 s - this script 2.295636 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FLVCR1	polymorphism_automatic	8.79058048575132e-10	simple_aae		affected		T544M	single base exchange	rs3207090		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999120942 (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)

chr1:213068595C>TN/A show variant in all transcripts IGV

HGNC symbol

FLVCR1

Ensembl transcript ID

ENST00000366971

Genbank transcript ID

NM_014053

UniProt peptide

Q9Y5Y0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1631C>T
cDNA.1829C>T
g.36999C>T

AA changes

T544M Score: 81 explain score(s)

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

544

frameshift

known variant

Reference ID: rs3207090

database	homozygous (T/T)	heterozygous	allele carriers
1000G	425	1050	1475
ExAC	13103	6561	19664

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.26	0.02
	-0.45	0
(flanking)	-1.771	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
Donor marginally increased	37000	wt: 0.9756 / mu: 0.9775 (marginal change - not scored)	wt: AAAACGGTTATGTTG mu: AAAATGGTTATGTTG	AACG\|gtta
Donor increased	36992	wt: 0.54 / mu: 0.75	wt: AAGAACCAAAAACGG mu: AAGAACCAAAAATGG	GAAC\|caaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

544

mutated

not conserved

544

Ptroglodytes

all identical

ENSPTRG00000001968

544

Mmulatta

all identical

ENSMMUG00000011732

544

Fcatus

all identical

ENSFCAG00000000207

460

VEDTVE

Mmusculus

not conserved

ENSMUSG00000066595

550

Ggallus

all identical

ENSGALG00000009807

468

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000031587

512

Dmelanogaster

no alignment

FBgn0033196

n/a

Celegans

all identical

C09D4.1

581

Xtropicalis

not conserved

ENSXETG00000014366

444

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

1866 / 1866

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

199 / 199

chromosome

strand

last intron/exon boundary

1792

theoretical NMD boundary in CDS

1543

length of CDS

1668

coding sequence (CDS) position

1631

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

1829

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

36999

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

213068595

original gDNA sequence snippet

CACAGACCAAGAACCAAAAACGGTTATGTTGTCCAAGCAGT

altered gDNA sequence snippet

CACAGACCAAGAACCAAAAATGGTTATGTTGTCCAAGCAGT

original cDNA sequence snippet

CACAGACCAAGAACCAAAAACGGTTATGTTGTCCAAGCAGT

altered cDNA sequence snippet

CACAGACCAAGAACCAAAAATGGTTATGTTGTCCAAGCAGT

wildtype AA sequence

MARPDDEEGA AVAPGHPLAK GYLPLPRGAP VGKESVELQN GPKAGTFPVN GAPRDSLAAA
SGVLGGPQTP LAPEEETQAR LLPAGAGAET PGAESSPLPL TALSPRRFVV LLIFSLYSLV
NAFQWIQYSI ISNVFEGFYG VTLLHIDWLS MVYMLAYVPL IFPATWLLDT RGLRLTALLG
SGLNCLGAWI KCGSVQQHLF WVTMLGQCLC SVAQVFILGL PSRIASVWFG PKEVSTACAT
AVLGNQLGTA VGFLLPPVLV PNTQNDTNLL ACNISTMFYG TSAVATLLFI LTAIAFKEKP
RYPPSQAQAA LQDSPPEEYS YKKSIRNLFK NIPFVLLLIT YGIMTGAFYS VSTLLNQMIL
TYYEGEEVNA GRIGLTLVVA GMVGSILCGL WLDYTKTYKQ TTLIVYILSF IGMVIFTFTL
DLRYIIIVFV TGGVLGFFMT GYLPLGFEFA VEITYPESEG TSSGLLNASA QIFGILFTLA
QGKLTSDYGP KAGNIFLCVW MFIGIILTAL IKSDLRRHNI NIGITNVDVK AIPADSPTDQ
EPKTVMLSKQ SESAI*

mutated AA sequence

speed

0.28 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