mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999704849162528 (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)

chr16:15131962A>GN/A show variant in all transcripts IGV

HGNC symbol

NTAN1

Ensembl transcript ID

ENST00000287706

Genbank transcript ID

NM_173474

UniProt peptide

Q96AB6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.859T>C
cDNA.952T>C
g.17960T>C

AA changes

S287P Score: 74 explain score(s)

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

287

frameshift

known variant

Reference ID: rs1135999

database	homozygous (G/G)	heterozygous	allele carriers
1000G	334	1055	1389
ExAC	7609	17549	25158

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.379	1
	3.393	1
(flanking)	0.776	1

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	17952	wt: 0.22 / mu: 0.27	wt: ACACCCATCTCCAGCTCACACACTGTTTTCTGGAAATAAAG mu: ACACCCATCTCCAGCTCACACACTGTTTCCTGGAAATAAAG	acac\|ACTG
Donor gained	17961	0.41	mu: GTTTCCTGGAAATAA	TTCC\|tgga

distance from splice site

106

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

287

mutated

not conserved

287

Ptroglodytes

not conserved

ENSPTRG00000007800

287

Mmulatta

not conserved

ENSMMUG00000002989

287

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000022681

287

Ggallus

not conserved

ENSGALG00000002835

287

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000079495

262

Dmelanogaster

not conserved

FBgn0034371

289

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000033953

287

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

933 / 933

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

311 / 311

position of stopcodon in wt / mu cDNA

1026 / 1026

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

94 / 94

chromosome

strand

-1

last intron/exon boundary

847

theoretical NMD boundary in CDS

703

length of CDS

933

coding sequence (CDS) position

859

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

952

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

17960

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

15131962

original gDNA sequence snippet

CTCCAGCTCACACACTGTTTTCTGGAAATAAAGCCCTACTC

altered gDNA sequence snippet

CTCCAGCTCACACACTGTTTCCTGGAAATAAAGCCCTACTC

original cDNA sequence snippet

CTCCAGCTCACACACTGTTTTCTGGAAATAAAGCCCTACTC

altered cDNA sequence snippet

CTCCAGCTCACACACTGTTTCCTGGAAATAAAGCCCTACTC

wildtype AA sequence

MPLLVEGRRV RLPQSAGDLV RAHPPLEERA RLLRGQSVQQ VGPQGLLYVQ QRELAVTSPK
DGSISILGSD DATTCHIVVL RHTGNGATCL THCDGTDTKA EVPLIMNSIK SFSDHAQCGR
LEVHLVGGFS DDRQLSQKLT HQLLSEFDRQ EDDIHLVTLC VTELNDREEN ENHFPVIYGI
AVNIKTAEIY RASFQDRGPE EQLRAARTLA GGPMISIYDA ETEQLRIGPY SWTPFPHVDF
WLHQDDKQIL ENLSTSPLAE PPHFVEHIRS TLMFLKKHPS PAHTLFSGNK ALLYKKNEDG
LWEKISSPGS *

mutated AA sequence

speed

1.04 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