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 CM900006)
known disease mutation: rs1966 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:43251695G>AN/A show variant in all transcripts IGV

HGNC symbol

PKIG

Ensembl transcript ID

ENST00000372882

Genbank transcript ID

N/A

UniProt peptide

Q9Y2B9

alteration type

single base exchange

alteration region

intron

DNA changes

g.91270G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121908740

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	13	13

known disease mutation: rs1966 (pathogenic for Severe combined immunodeficiency due to ADA deficiency|Partial adenosine deaminase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900006)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900006)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900006)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.516	1
	2.295	1
(flanking)	1.114	1

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	91270	wt: 0.9884 / mu: 0.9947 (marginal change - not scored)	wt: AGTACGGTGAATGCC mu: AGTACAGTGAATGCC	TACG\|gtga
Donor increased	91265	wt: 0.52 / mu: 0.98	wt: TGGACAGTACGGTGA mu: TGGACAGTACAGTGA	GACA\|gtac

distance from splice site

879

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

144 / 144

chromosome

strand

last intron/exon boundary

295

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)

91270

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

43251695

original gDNA sequence snippet

CTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAG

altered gDNA sequence snippet

CTCCCCGGCGTGGACAGTACAGTGAATGCCGCTCTTCACAG

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

0.60 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