mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99901771752186 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM074196)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:34650438A>GN/A show variant in all transcripts IGV

HGNC symbol

GALT

Ensembl transcript ID

ENST00000378842

Genbank transcript ID

NM_000155

UniProt peptide

P07902

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1132A>G
cDNA.1174A>G
g.12309A>G

AA changes

I378V Score: 29 explain score(s)

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

378

frameshift

known variant

Reference ID: rs111033819

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

known disease mutation at this position, please check HGMD for details (HGMD ID CM074196)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074196)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074196)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.454	0.928
	-0.001	0.888
(flanking)	0.207	0.881

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

378

mutated

all conserved

378

Ptroglodytes

all identical

ENSPTRG00000020886

378

Mmulatta

all identical

ENSMMUG00000020789

378

Fcatus

all identical

ENSFCAG00000016304

371

Mmusculus

all identical

ENSMUSG00000036073

359

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000016445

n/a

Drerio

no alignment

ENSDARG00000069543

n/a

Dmelanogaster

no alignment

FBgn0263200

n/a

Celegans

no alignment

ZK1058.3

n/a

Xtropicalis

no alignment

ENSXETG00000013206

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1140 / 1140

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

380 / 380

position of stopcodon in wt / mu cDNA

1182 / 1182

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

43 / 43

chromosome

strand

last intron/exon boundary

1102

theoretical NMD boundary in CDS

1009

length of CDS

1140

coding sequence (CDS) position

1132

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

1174

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

12309

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

34650438

original gDNA sequence snippet

AGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCA

altered gDNA sequence snippet

AGGACAGGGAGACAGCAACCGTCGCCTGACCACGCCGACCA

original cDNA sequence snippet

AGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCA

altered cDNA sequence snippet

AGGACAGGGAGACAGCAACCGTCGCCTGACCACGCCGACCA

wildtype AA sequence

MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ
LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK
SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*

mutated AA sequence

speed

1.33 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