mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999958 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM002057)
known disease mutation: rs6617 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:74531952C>TN/A show variant in all transcripts IGV

HGNC symbol

ALDH6A1

Ensembl transcript ID

ENST00000350259

Genbank transcript ID

N/A

UniProt peptide

Q02252

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1297G>A
cDNA.1350G>A
g.19245G>A

AA changes

G433R Score: 125 explain score(s)

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

433

frameshift

known variant

Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
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)	6.289	1
	6.289	1
(flanking)	0.713	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 increased	19237	wt: 0.43 / mu: 0.63	wt: CCCATATGGAAATGG mu: CCCATATGGAAATAG	CATA\|tgga
Donor marginally increased	19250	wt: 0.3247 / mu: 0.3554 (marginal change - not scored)	wt: GGAACTGCCATCTTC mu: AGAACTGCCATCTTC	AACT\|gcca
Donor increased	19243	wt: 0.49 / mu: 0.74	wt: TGGAAATGGAACTGC mu: TGGAAATAGAACTGC	GAAA\|tgga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

433

mutated

not conserved

433

Ptroglodytes

all identical

ENSPTRG00000006531

405

Mmulatta

all identical

ENSMMUG00000012684

450

Fcatus

all identical

ENSFCAG00000006202

447

Mmusculus

all identical

ENSMUSG00000021238

446

Ggallus

all identical

ENSGALG00000010211

449

Trubripes

all identical

ENSTRUG00000018226

436

Drerio

all identical

ENSDARG00000053485

436

Dmelanogaster

all identical

FBgn0023537

432

Celegans

all identical

F13D12.4

436

Xtropicalis

all identical

ENSXETG00000013304

434

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1569 / 1569

position (AA) of stopcodon in wt / mu AA sequence

523 / 523

position of stopcodon in wt / mu cDNA

1622 / 1622

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

54 / 54

chromosome

strand

-1

last intron/exon boundary

1518

theoretical NMD boundary in CDS

1414

length of CDS

1569

coding sequence (CDS) position

1297

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

1350

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

19245

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

74531952

original gDNA sequence snippet

ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC

altered gDNA sequence snippet

ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC

original cDNA sequence snippet

ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC

altered cDNA sequence snippet

ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC

wildtype AA sequence

MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQKEIAKLI TLEQGKTLAD
AEGDVFRGLQ VVEHACSVTS LMMGETMPSI TKDMDLYSYR LPLGVCAGIA PFNFPAMIPL
WMFPMAMVCG NTFLMKPSER VPGATMLLAK LLQDSGAPDG TLNIIHGQHE AVNFICDHPD
IKAISFVGSN KAGEYIFERG SRHGKRVQAN MGAKNHGVVM PDANKENTLN QLVGAAFGAA
GQRCMALSTA VLVGEAKKWL PELVEHAKNL RVNAGDQPGA DLGPLITPQA KERVCNLIDS
GTKEGASILL DGRKIKVKGY ENGNFVGPTI ISNVKPNMTC YKEEIFGPVL VVLETETLDE
AIQIVNNNPY GNGTAIFTTN GATARKYAHL VDVGQVGVNV PIPVPLPMFS FTGSRSSFRG
DTNFYGKQGI QFYTQLKTIT SQWKEEDATL SSPAVVMPTM GR*

mutated AA sequence

MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQKEIAKLI TLEQGKTLAD
AEGDVFRGLQ VVEHACSVTS LMMGETMPSI TKDMDLYSYR LPLGVCAGIA PFNFPAMIPL
WMFPMAMVCG NTFLMKPSER VPGATMLLAK LLQDSGAPDG TLNIIHGQHE AVNFICDHPD
IKAISFVGSN KAGEYIFERG SRHGKRVQAN MGAKNHGVVM PDANKENTLN QLVGAAFGAA
GQRCMALSTA VLVGEAKKWL PELVEHAKNL RVNAGDQPGA DLGPLITPQA KERVCNLIDS
GTKEGASILL DGRKIKVKGY ENGNFVGPTI ISNVKPNMTC YKEEIFGPVL VVLETETLDE
AIQIVNNNPY GNRTAIFTTN GATARKYAHL VDVGQVGVNV PIPVPLPMFS FTGSRSSFRG
DTNFYGKQGI QFYTQLKTIT SQWKEEDATL SSPAVVMPTM GR*

speed

0.34 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