MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000378842
Querying Taster for transcript #2: ENST00000450095
MT speed 0 s - this script 2.507358 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GALT	disease_causing_automatic	0.997771412312693	simple_aae		affected	0	E203K	single base exchange	rs111033736		show file
GALT	disease_causing_automatic	0.998013017025996	simple_aae		affected	0	E94K	single base exchange	rs111033736		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.997771412312693 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM950552)
known disease mutation: rs3622 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:34648373G>AN/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.607G>A
cDNA.649G>A
g.10244G>A

AA changes

E203K Score: 56 explain score(s)

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

203

frameshift

known variant

Reference ID: rs111033736
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs3622 (pathogenic for Galactosemia|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950552)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950552)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950552)

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)	1.882	1
	2.676	1
(flanking)	2.235	0.999

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	10240	wt: 0.9755 / mu: 0.9952 (marginal change - not scored)	wt: CAGCGTGAGGAGCGA mu: CAGCGTGAGAAGCGA	GCGT\|gagg
Donor increased	10242	wt: 0.38 / mu: 0.74	wt: GCGTGAGGAGCGATC mu: GCGTGAGAAGCGATC	GTGA\|ggag
Donor marginally increased	10245	wt: 0.9131 / mu: 0.9436 (marginal change - not scored)	wt: TGAGGAGCGATCTCA mu: TGAGAAGCGATCTCA	AGGA\|gcga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

203

mutated

all conserved

203

Ptroglodytes

all identical

ENSPTRG00000020886

203

Mmulatta

all identical

ENSMMUG00000020789

203

Fcatus

all identical

ENSFCAG00000016304

203

Mmusculus

all identical

ENSMUSG00000036073

184

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000016445

188

Drerio

all identical

ENSDARG00000069543

188

Dmelanogaster

all conserved

FBgn0263200

182

Celegans

not conserved

ZK1058.3

184

Xtropicalis

not conserved

ENSXETG00000013206

166

LVII

protein features

start (aa)	end (aa)	feature	details
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

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

607

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

649

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

10244

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

34648373

original gDNA sequence snippet

CAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTAT

altered gDNA sequence snippet

CAGATATTGCCCAGCGTGAGAAGCGATCTCAGCAGGCCTAT

original cDNA sequence snippet

CAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTAT

altered cDNA sequence snippet

CAGATATTGCCCAGCGTGAGAAGCGATCTCAGCAGGCCTAT

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

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

speed

0.26 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
back to results table

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.998013017025996 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM950552)
known disease mutation: rs3622 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:34648373G>AN/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.280G>A
cDNA.551G>A
g.10244G>A

AA changes

E94K Score: 56 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.882	1
	2.676	1
(flanking)	2.235	0.999

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	10240	wt: 0.9755 / mu: 0.9952 (marginal change - not scored)	wt: CAGCGTGAGGAGCGA mu: CAGCGTGAGAAGCGA	GCGT\|gagg
Donor increased	10242	wt: 0.38 / mu: 0.74	wt: GCGTGAGGAGCGATC mu: GCGTGAGAAGCGATC	GTGA\|ggag
Donor marginally increased	10245	wt: 0.9131 / mu: 0.9436 (marginal change - not scored)	wt: TGAGGAGCGATCTCA mu: TGAGAAGCGATCTCA	AGGA\|gcga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000020886

203

Mmulatta

all identical

ENSMMUG00000020789

203

Fcatus

all identical

ENSFCAG00000016304

203

Mmusculus

all identical

ENSMUSG00000036073

184

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000016445

188

Drerio

all identical

ENSDARG00000069543

188

Dmelanogaster

all conserved

FBgn0263200

182

Celegans

not conserved

ZK1058.3

184

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

280

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

551

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

10244

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

34648373

original gDNA sequence snippet

CAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTAT

altered gDNA sequence snippet

CAGATATTGCCCAGCGTGAGAAGCGATCTCAGCAGGCCTAT

original cDNA sequence snippet

CAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTAT

altered cDNA sequence snippet

CAGATATTGCCCAGCGTGAGAAGCGATCTCAGCAGGCCTAT

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 QREKRSQQAY KSQHGEPLLM EYSRQELLRK
ERLVLTSEHW LVLVPFWATW PYQTLLLPRR HVRRLPELTP AERDDLASIM KKLLTKYDNL
FETSFPYSMG WHGAPTGSEA GANWNHWQLH AHYYPPLLRS ATVRKFMVGY EMLAQAQRDL
TPEQAAERLR ALPEVHYHLG QKDRETATIA *

speed

0.25 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems