MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000332272
Querying Taster for transcript #2: ENST00000390664
MT speed 0 s - this script 3.052692 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CHST6	disease_causing_automatic	0.999999999876355	simple_aae		affected	0	L276P	single base exchange	rs121917824		show file
CHST6	disease_causing_automatic	0.999999999876355	simple_aae		affected	0	L276P	single base exchange	rs121917824		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999876355 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM040699)
known disease mutation: rs5078 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:75512900A>GN/A show variant in all transcripts IGV

HGNC symbol

CHST6

Ensembl transcript ID

ENST00000332272

Genbank transcript ID

NM_021615

UniProt peptide

Q9GZX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.827T>C
cDNA.1007T>C
g.16383T>C

AA changes

L276P Score: 98 explain score(s)

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

276

frameshift

known variant

Reference ID: rs121917824

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	6	6

known disease mutation: rs5078 (pathogenic for Macular corneal dystrophy) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM040699)

known disease mutation at this position, please check HGMD for details (HGMD ID CM040699)
known disease mutation at this position, please check HGMD for details (HGMD ID CM040699)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.585	1
	4.328	1
(flanking)	0.561	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
Acc marginally increased	16377	wt: 0.8551 / mu: 0.8954 (marginal change - not scored)	wt: CTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGC mu: CTACCGCCTGGTGCGCTTCGAGGACCCGGCGCGGGAGCCGC	tcga\|GGAC
Donor gained	16383	0.31	mu: GGACCCGGCGCGGGA	ACCC\|ggcg

distance from splice site

843

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

276

mutated

not conserved

276

Ptroglodytes

all identical

ENSPTRG00000042548

276

Mmulatta

all identical

ENSMMUG00000001563

276

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031952

276

Ggallus

all identical

ENSGALG00000000913

277

Trubripes

no homologue

Drerio

all identical

ENSDARG00000061357

315

Dmelanogaster

all identical

FBgn0051637

383

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003576

276

protein features

start (aa)	end (aa)	feature	details
27	395	TOPO_DOM	Lumenal (Potential).	lost
305	305	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
328	328	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1188 / 1188

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

396 / 396

position of stopcodon in wt / mu cDNA

1368 / 1368

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

181 / 181

chromosome

strand

-1

last intron/exon boundary

165

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1188

coding sequence (CDS) position

827

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

1007

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

16383

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

75512900

original gDNA sequence snippet

CCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAG

altered gDNA sequence snippet

CCTGGTGCGCTTCGAGGACCCGGCGCGGGAGCCGCTGGCAG

original cDNA sequence snippet

CCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAG

altered cDNA sequence snippet

CCTGGTGCGCTTCGAGGACCCGGCGCGGGAGCCGCTGGCAG

wildtype AA sequence

MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR SGSSFVGQLF
NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF LCDMDVFDAY LPWRRNLSDL
FQWAVSRALC SPPACSAFPR GAISSEAVCK PLCARQSFTL AREACRSYSH VVLKEVRFFN
LQVLYPLLSD PALNLRIVHL VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR
VVREVCRSHV RIAEAATLKP PPFLRGRYRL VRFEDLAREP LAEIRALYAF TGLSLTPQLE
AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA GALQLLGYRP
VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN*

mutated AA sequence

MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR SGSSFVGQLF
NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF LCDMDVFDAY LPWRRNLSDL
FQWAVSRALC SPPACSAFPR GAISSEAVCK PLCARQSFTL AREACRSYSH VVLKEVRFFN
LQVLYPLLSD PALNLRIVHL VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR
VVREVCRSHV RIAEAATLKP PPFLRGRYRL VRFEDPAREP LAEIRALYAF TGLSLTPQLE
AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA GALQLLGYRP
VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN*

speed

0.94 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: 0.999999999876355 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM040699)
known disease mutation: rs5078 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:75512900A>GN/A show variant in all transcripts IGV

HGNC symbol

CHST6

Ensembl transcript ID

ENST00000390664

Genbank transcript ID

N/A

UniProt peptide

Q9GZX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.827T>C
cDNA.1519T>C
g.16383T>C

AA changes

L276P Score: 98 explain score(s)

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

276

frameshift

known variant

Reference ID: rs121917824

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	6	6

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.585	1
	4.328	1
(flanking)	0.561	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
Acc marginally increased	16377	wt: 0.8551 / mu: 0.8954 (marginal change - not scored)	wt: CTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGC mu: CTACCGCCTGGTGCGCTTCGAGGACCCGGCGCGGGAGCCGC	tcga\|GGAC
Donor gained	16383	0.31	mu: GGACCCGGCGCGGGA	ACCC\|ggcg

distance from splice site

575

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

276

mutated

not conserved

276

Ptroglodytes

all identical

ENSPTRG00000042548

276

Mmulatta

all identical

ENSMMUG00000001563

276

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031952

276

Ggallus

all identical

ENSGALG00000000913

277

Trubripes

no homologue

Drerio

all identical

ENSDARG00000061357

315

Dmelanogaster

all identical

FBgn0051637

383

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003576

276

protein features

start (aa)	end (aa)	feature	details
27	395	TOPO_DOM	Lumenal (Potential).	lost
305	305	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
328	328	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1188 / 1188

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

396 / 396

position of stopcodon in wt / mu cDNA

1880 / 1880

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

693 / 693

chromosome

strand

-1

last intron/exon boundary

677

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1188

coding sequence (CDS) position

827

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

1519

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

16383

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

75512900

original gDNA sequence snippet

CCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAG

altered gDNA sequence snippet

CCTGGTGCGCTTCGAGGACCCGGCGCGGGAGCCGCTGGCAG

original cDNA sequence snippet

CCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAG

altered cDNA sequence snippet

CCTGGTGCGCTTCGAGGACCCGGCGCGGGAGCCGCTGGCAG

wildtype AA sequence

mutated AA sequence

MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR SGSSFVGQLF
NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF LCDMDVFDAY LPWRRNLSDL
FQWAVSRALC SPPACSAFPR GAISSEAVCK PLCARQSFTL AREACRSYSH VVLKEVRFFN
LQVLYPLLSD PALNLRIVHL VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR
VVREVCRSHV RIAEAATLKP PPFLRGRYRL VRFEDPAREP LAEIRALYAF TGLSLTPQLE
AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA GALQLLGYRP
VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN*

speed

1.01 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems