mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.11811384634791e-07 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:218695102G>AN/A show variant in all transcripts IGV

HGNC symbol

TNS1

Ensembl transcript ID

ENST00000430930

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.172617C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3796028

database	homozygous (A/A)	heterozygous	allele carriers
1000G	373	1134	1507
ExAC	7927	16913	24840

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.52	0.982
	-0.224	0.976
(flanking)	1.076	0.995

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 increased	172607	wt: 0.8938 / mu: 0.9000 (marginal change - not scored)	wt: ACTTTACTTTTTTCCTTAGTTACCAGAAGACGGATCCAGCC mu: ACTTTACTTTTTTCCTTAGTTACCAGAAGATGGATCCAGCC	agtt\|ACCA

distance from splice site

1076

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

163 / 163

chromosome

strand

-1

last intron/exon boundary

5163

theoretical NMD boundary in CDS

4950

length of CDS

5145

coding sequence (CDS) position

N/A

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

N/A

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

172617

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

218695102

original gDNA sequence snippet

TTTCCTTAGTTACCAGAAGACGGATCCAGCCAGGTAGGTGG

altered gDNA sequence snippet

TTTCCTTAGTTACCAGAAGATGGATCCAGCCAGGTAGGTGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGE PRSYVESVAR TAVAGPRAQD
SEPKSFSAPA TQAYGHEIPL RNGTLGGSFV SPSPLSTSSP ILSADSTSVG SFPSGESSDQ
GPRTPTQPLL ESGFRSGSLG QPSPSAQRNY QSSSPLPTVG SSYSSPDYSL QHFSSSPESQ
ARAQFSVAGV HTVPGSPQAR HRTVGTNTPP SPGFGWRAIN PSMAAPSSPS LSHHQMMGPP
GTGFHGSTVS SPQSSAATTP GSPSLCRHPA GVYQVSGLHN KVATTPGSPS LGRHPGAHQG
NLASGLHSNA IASPGSPSLG RHLGGSGSVV PGSPCLDRHV AYGGYSTPED RRPTLSRQSS
ASGYQAPSTP SFPVSPAYYP GLSSPATSPS PDSAAFRQGS PTPALPEKRR MSVGDRAGSL
PNYATINGKV SSPVASGMSS PSGGSTVSFS HTLPDFSKYS MPDNSPETRA KVKFVQDTSK
YWYKPEISRE QAIALLKDQE PGAFIIRDSH SFRGAYGLAM KVSSPPPTIM QQNKKGDMTH
ELVRHFLIET GPRGVKLKGC PNEPNFGSLS ALVYQHSIIP LALPCKLVIP NRDPTDESKD
SSGPANSTAD LLKQGAACNV LFVNSVDMES LTGPQAISKA TSETLAADPT PAATIVHFKV
SAQGITLTDN QRKLFFRRHY PLNTVTFCDL DPQERKWMKT EGGAPAKLFG FVARKQGSTT
DNACHLFAEL DPNQPASAIV NFVSKVMLNA GQKR*

mutated AA sequence

N/A

speed

1.12 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