mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999997334886108 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM078165)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:7913430G>AN/A show variant in all transcripts IGV

HGNC symbol

UTS2

Ensembl transcript ID

ENST00000377516

Genbank transcript ID

N/A

UniProt peptide

O95399

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.143C>T
g.143C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs228648

database	homozygous (A/A)	heterozygous	allele carriers
1000G	609	1178	1787
ExAC	17384	-2001	15383

known disease mutation at this position, please check HGMD for details (HGMD ID CM078165)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.342	0.072
	-0.325	0.007
(flanking)	-0.338	0.012

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -55) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	151	wt: 0.8501 / mu: 0.9122 (marginal change - not scored)	wt: CTCATAAATCCACGTCTCTTTGCTTTGGCCACTTCAACTCA mu: CTCATAAATCCATGTCTCTTTGCTTTGGCCACTTCAACTCA	cttt\|GCTT
Acc increased	153	wt: 0.77 / mu: 0.89	wt: CATAAATCCACGTCTCTTTGCTTTGGCCACTTCAACTCATA mu: CATAAATCCATGTCTCTTTGCTTTGGCCACTTCAACTCATA	ttgc\|TTTG

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL		might get lost (downstream of altered splice site)
21	110	PROPEP	/FTId=PRO_0000036346.	might get lost (downstream of altered splice site)
114	124	PEPTIDE	Urotensin-2. /FTId=PRO_0000036347.	might get lost (downstream of altered splice site)
118	118	DISULFID	By similarity.	might get lost (downstream of altered splice site)
123	123	DISULFID	By similarity.	might get lost (downstream of altered splice site)

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

322 / 322

chromosome

strand

-1

last intron/exon boundary

734

theoretical NMD boundary in CDS

362

length of CDS

420

coding sequence (CDS) position

N/A

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

143

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

143

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

7913430

original gDNA sequence snippet

TGCTCGGACTCATAAATCCACGTCTCTTTGCTTTGGCCACT

altered gDNA sequence snippet

TGCTCGGACTCATAAATCCATGTCTCTTTGCTTTGGCCACT

original cDNA sequence snippet

TGCTCGGACTCATAAATCCACGTCTCTTTGCTTTGGCCACT

altered cDNA sequence snippet

TGCTCGGACTCATAAATCCATGTCTCTTTGCTTTGGCCACT

wildtype AA sequence

MYKLASCCLL FIGFLNPLLS LPLLDSREIS FQLSAPHEDA RLTPEELERA SLLQILPEML
GAERGDILRK ADSSTNIFNP RGNLRKFQDF SGQDPNILLS HLLARIWKPY KKQRRKLRQD
LRLWKKEPGL RIFKNYVWV*

mutated AA sequence

N/A

speed

0.27 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