mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM032569)
known disease mutation: rs224624 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:86663485T>CN/A show variant in all transcripts IGV

HGNC symbol

PRSS23

Ensembl transcript ID

ENST00000533902

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1576T>C
g.161385T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs80358284

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs224624 (pathogenic for Retinal dystrophy|Exudative retinopathy|Familial exudative vitreoretinopathy|Exudative vitreoretinopathy 1|Atrophia bulborum hereditaria|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032569)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032569)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032569)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.161	1
	3.637	1
(flanking)	-0.678	0.881

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

splice sites

splice site change occurs after stopcodon (at aa 475)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	161377	wt: 0.45 / mu: 0.57	wt: ATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAAC mu: ATGGGGATGTTGATCTTCTCTGTGCACACTGGCACATAAAC	ctct\|GTGC
Acc marginally increased	161379	wt: 0.9211 / mu: 0.9417 (marginal change - not scored)	wt: GGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAG mu: GGGGATGTTGATCTTCTCTGTGCACACTGGCACATAAACAG	ctgt\|GCAC

distance from splice site

402

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

143 / 143

chromosome

strand

last intron/exon boundary

349

theoretical NMD boundary in CDS

156

length of CDS

276

coding sequence (CDS) position

N/A

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

1576

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

161385

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

86663485

original gDNA sequence snippet

GTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAA

altered gDNA sequence snippet

GTTGATCTTCTCTGTGCACACTGGCACATAAACAGAACAAA

original cDNA sequence snippet

GTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAA

altered cDNA sequence snippet

GTTGATCTTCTCTGTGCACACTGGCACATAAACAGAACAAA

wildtype AA sequence

MSRMRPVCQP WPSPHAPTTV KREGSTVSNS IQPPPPEYQL GSRTWLEAET PGQKRQCSAF
MEFTEESRRI HQSVGTLLPR VKSFGRPNPH A*

mutated AA sequence

N/A

speed

0.68 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