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 CM042704)
known disease mutation: rs5487 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:86662774T>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.865T>C
g.160674T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs80358293

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	-	-	-

known disease mutation: rs5487 (pathogenic for Exudative vitreoretinopathy 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042704)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042704)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042704)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.57	1
	3.463	1
(flanking)	0.547	0.998

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	160665	wt: 0.9766 / mu: 0.9856 (marginal change - not scored)	wt: ATAAGAGCTGTGCAT mu: ATAAGAGCTGTGCAC	AAGA\|gctg

distance from splice site

517

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)

865

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

160674

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

86662774

original gDNA sequence snippet

GTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCC

altered gDNA sequence snippet

GTGGAAATAAGAGCTGTGCACTTCAATGGCTTCATGACCCC

original cDNA sequence snippet

GTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCC

altered cDNA sequence snippet

GTGGAAATAAGAGCTGTGCACTTCAATGGCTTCATGACCCC

wildtype AA sequence

MSRMRPVCQP WPSPHAPTTV KREGSTVSNS IQPPPPEYQL GSRTWLEAET PGQKRQCSAF
MEFTEESRRI HQSVGTLLPR VKSFGRPNPH A*

mutated AA sequence

N/A

speed

1.25 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