mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known as potential disease variant: rs1958 (probable pathogenic)
known disease mutation at this position (HGMD CM860002)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:43249723A>CN/A show variant in all transcripts IGV

HGNC symbol

PKIG

Ensembl transcript ID

ENST00000372887

Genbank transcript ID

N/A

UniProt peptide

Q9Y2B9

alteration type

single base exchange

alteration region

intron

DNA changes

g.89298A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs199422327

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	9	9

known as potential disease variant: rs1958 (probable pathogenic for Severe combined immunodeficiency due to ADA deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM860002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM860002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM860002)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.098	0.787
	4.745	0.999
(flanking)	0.763	0.999

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	89291	wt: 0.7429 / mu: 0.8047 (marginal change - not scored)	wt: CGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAA mu: CGTTTGGTCATCTGGTAATCAGTGTCCCGGGTGGACTTGAA	atca\|GTGT
Donor increased	89300	wt: 0.25 / mu: 0.42	wt: TCCAGGGTGGACTTG mu: TCCCGGGTGGACTTG	CAGG\|gtgg

distance from splice site

2851

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

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

304 / 304

chromosome

strand

last intron/exon boundary

455

theoretical NMD boundary in CDS

101

length of CDS

195

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)

89298

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

43249723

original gDNA sequence snippet

TCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGC

altered gDNA sequence snippet

TCATCTGGTAATCAGTGTCCCGGGTGGACTTGAAGATGAGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MMEVESSYSD FISCDRTGRR NAVPDIQGDS EAVSVRKLAG DMGELALEGA EMDLTMLPWL
VSNS*

mutated AA sequence

N/A

speed

0.30 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