mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999623585176 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM125425)
known disease mutation: rs37360 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:34648446T>CN/A show variant in all transcripts IGV

HGNC symbol

GALT

Ensembl transcript ID

ENST00000450095

Genbank transcript ID

NM_001258332

UniProt peptide

P07902

alteration type

single base exchange

alteration region

CDS

DNA changes

c.353T>C
cDNA.624T>C
g.10317T>C

AA changes

L118P Score: 98 explain score(s)

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

118

frameshift

known variant

Reference ID: rs111033846
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs37360 (pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM125425)

regulatory features

H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.937	0.982
	2.522	0.997
(flanking)	0.268	0.997

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	10318	wt: 0.76 / mu: 0.92	wt: CTACTCAGGAAGGTG mu: CTACCCAGGAAGGTG	ACTC\|agga
Donor increased	10308	wt: 0.44 / mu: 0.57	wt: CCGCCAGGAGCTACT mu: CCGCCAGGAGCTACC	GCCA\|ggag
Donor marginally increased	10319	wt: 0.9825 / mu: 0.9868 (marginal change - not scored)	wt: TACTCAGGAAGGTGG mu: TACCCAGGAAGGTGG	CTCA\|ggaa
Donor marginally increased	10311	wt: 0.8019 / mu: 0.8330 (marginal change - not scored)	wt: CCAGGAGCTACTCAG mu: CCAGGAGCTACCCAG	AGGA\|gcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

118

mutated

not conserved

118

Ptroglodytes

all identical

ENSPTRG00000020886

227

Mmulatta

all identical

ENSMMUG00000020789

227

Fcatus

all identical

ENSFCAG00000016304

227

Mmusculus

all identical

ENSMUSG00000036073

208

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016445

212

Drerio

not conserved

ENSDARG00000069543

212

Dmelanogaster

not conserved

FBgn0263200

206

Celegans

all identical

ZK1058.3

208

Xtropicalis

no alignment

ENSXETG00000013206

n/a

protein features

start (aa)	end (aa)	feature	details
184	184	METAL	Zinc (Potential).	might get lost (downstream of altered splice site)
186	186	ACT_SITE	Tele-UMP-histidine intermediate (By similarity).	might get lost (downstream of altered splice site)
202	202	METAL	Iron (Potential).	might get lost (downstream of altered splice site)
258	259	CONFLICT	RR -> VG (in Ref. 1; AAC83409).	might get lost (downstream of altered splice site)
301	301	METAL	Iron (Potential).	might get lost (downstream of altered splice site)
319	319	METAL	Iron (Potential).	might get lost (downstream of altered splice site)
321	321	METAL	Iron (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

1084 / 1084

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

272 / 272

chromosome

strand

last intron/exon boundary

1004

theoretical NMD boundary in CDS

682

length of CDS

813

coding sequence (CDS) position

353

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

624

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

10317

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

34648446

original gDNA sequence snippet

GTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCC

altered gDNA sequence snippet

GTACAGCCGCCAGGAGCTACCCAGGAAGGTGGGAGAGAGCC

original cDNA sequence snippet

GTACAGCCGCCAGGAGCTACTCAGGAAGGAACGTCTGGTCC

altered cDNA sequence snippet

GTACAGCCGCCAGGAGCTACCCAGGAAGGAACGTCTGGTCC

wildtype AA sequence

MTLSTLCVLG PSEPTESKVM CFHPWSDVTL PLMSVPEIRA VVDAWASVTE ELGAQYPWVQ
IFENKGAMMG CSNPHPHCQV WASSFLPDIA QREERSQQAY KSQHGEPLLM EYSRQELLRK
ERLVLTSEHW LVLVPFWATW PYQTLLLPRR HVRRLPELTP AERDDLASIM KKLLTKYDNL
FETSFPYSMG WHGAPTGSEA GANWNHWQLH AHYYPPLLRS ATVRKFMVGY EMLAQAQRDL
TPEQAAERLR ALPEVHYHLG QKDRETATIA *

mutated AA sequence

MTLSTLCVLG PSEPTESKVM CFHPWSDVTL PLMSVPEIRA VVDAWASVTE ELGAQYPWVQ
IFENKGAMMG CSNPHPHCQV WASSFLPDIA QREERSQQAY KSQHGEPLLM EYSRQELPRK
ERLVLTSEHW LVLVPFWATW PYQTLLLPRR HVRRLPELTP AERDDLASIM KKLLTKYDNL
FETSFPYSMG WHGAPTGSEA GANWNHWQLH AHYYPPLLRS ATVRKFMVGY EMLAQAQRDL
TPEQAAERLR ALPEVHYHLG QKDRETATIA *

speed

1.14 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