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 CM040214)
known disease mutation: rs1995 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:17931590A>TN/A show variant in all transcripts IGV

HGNC symbol

ATPAF2

Ensembl transcript ID

ENST00000585101

Genbank transcript ID

N/A

UniProt peptide

Q8N5M1

alteration type

single base exchange

alteration region

intron

DNA changes

g.10934T>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs104894554
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs1995 (pathogenic for Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM040214)

known disease mutation at this position, please check HGMD for details (HGMD ID CM040214)
known disease mutation at this position, please check HGMD for details (HGMD ID CM040214)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.061	1
	5.005	1
(flanking)	-0.153	0.935

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 gained	10930	0.93	mu: GCTACTGAGAGGGAT	TACT\|gaga
Donor gained	10934	0.58	mu: CTGAGAGGGATTCCC	GAGA\|ggga
Donor gained	10929	0.31	mu: GGCTACTGAGAGGGA	CTAC\|tgag

distance from splice site

339

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

156 / 156

chromosome

strand

-1

last intron/exon boundary

513

theoretical NMD boundary in CDS

307

length of CDS

324

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)

10934

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

17931590

original gDNA sequence snippet

CCATTGCAGTGGCTACTGAGTGGGATTCCCAGCAGGATACC

altered gDNA sequence snippet

CCATTGCAGTGGCTACTGAGAGGGATTCCCAGCAGGATACC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MWRSCLRLRD GGRRLLNRPA GGPSASMSPG PTIPSPARAY APPTERKRFY QNVSITQGED
HIVQHIIGQP NPEKQGSADP GSREVSGHRH HLLQGGGARD ISGTSKE*

mutated AA sequence

N/A

speed

0.73 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