MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000340243
Querying Taster for transcript #2: ENST00000374277
Querying Taster for transcript #3: ENST00000538825
Querying Taster for transcript #4: ENST00000449464
Querying Taster for transcript #5: ENST00000335083
MT speed 0 s - this script 4.575085 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANXA8L2	polymorphism_automatic	8.77260781879663e-05	simple_aae		affected		N173K	single base exchange	rs202221168		show file
ANXA8L2	polymorphism_automatic	0.000118491028331946	simple_aae		affected		N192K	single base exchange	rs202221168		show file
ANXA8L2	polymorphism_automatic	0.000118491028331946	simple_aae		affected		N130K	single base exchange	rs202221168		show file
ANXA8L2	polymorphism_automatic	0.999999999240188	without_aae		affected			single base exchange	rs202221168		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999912273921812 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:47756662T>GN/A show variant in all transcripts IGV

HGNC symbol

ANXA8L2

Ensembl transcript ID

ENST00000340243

Genbank transcript ID

N/A

UniProt peptide

Q5VT79

alteration type

single base exchange

alteration region

CDS

DNA changes

c.519T>G
cDNA.695T>G
g.9727T>G

AA changes

N173K Score: 94 explain score(s)

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

173

frameshift

known variant

Reference ID: rs202221168

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	7811	2212	10023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.936	0.991
	1.034	0.946
(flanking)	0.398	0.767

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	9718	wt: 0.9787 / mu: 0.9854 (marginal change - not scored)	wt: GCGGCAGGCGAGAAT mu: GCGGCAGGCGAGAAG	GGCA\|ggcg
Donor increased	9721	wt: 0.39 / mu: 0.99	wt: GCAGGCGAGAATATT mu: GCAGGCGAGAAGATT	AGGC\|gaga
Donor increased	9723	wt: 0.48 / mu: 0.91	wt: AGGCGAGAATATTCG mu: AGGCGAGAAGATTCG	GCGA\|gaat
Donor gained	9726	0.87	mu: CGAGAAGATTCGTGG	AGAA\|gatt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

173

mutated

not conserved

173

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000013446

172

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021950

172

Ggallus

not conserved

ENSGALG00000005956

162

DNASLYVDTALARQDAET

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
181	247	REPEAT	Annexin 3.	might get lost (downstream of altered splice site)
257	322	REPEAT	Annexin 4.	might get lost (downstream of altered splice site)
266	266	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
268	268	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
270	270	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
310	310	METAL	Calcium (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

831 / 831

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

277 / 277

position of stopcodon in wt / mu cDNA

1007 / 1007

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

177 / 177

chromosome

strand

last intron/exon boundary

948

theoretical NMD boundary in CDS

721

length of CDS

831

coding sequence (CDS) position

519

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

695

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

9727

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

47756662

original gDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered gDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

original cDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered cDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

wildtype AA sequence

MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGVG SQLLSHQAAA FAFPSSALTS
VSPWGQQGHL CCNPAGTNEQ AIIDVLTKRS NTQRQQIAKS FKAQFGKDLT ETLKSELSGK
FERLIVALMY PPYRYEAKEL HDAMKGSRDD VSSFVDPALA LQDAQDLYAA GENIRGTDEM
KFITILCTRS ATHLLRVKCT QNLHSYFAER LYYAMKGAGT RDGTLIRNIV SRSEIDLNLI
KCHFKKMYGK TLSSMIMEDT SGDYKNALLS LVGSDP*

mutated AA sequence

MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGVG SQLLSHQAAA FAFPSSALTS
VSPWGQQGHL CCNPAGTNEQ AIIDVLTKRS NTQRQQIAKS FKAQFGKDLT ETLKSELSGK
FERLIVALMY PPYRYEAKEL HDAMKGSRDD VSSFVDPALA LQDAQDLYAA GEKIRGTDEM
KFITILCTRS ATHLLRVKCT QNLHSYFAER LYYAMKGAGT RDGTLIRNIV SRSEIDLNLI
KCHFKKMYGK TLSSMIMEDT SGDYKNALLS LVGSDP*

speed

0.82 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

polymorphism

Model: simple_aae, prob: 0.999881508971668 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:47756662T>GN/A show variant in all transcripts IGV

HGNC symbol

ANXA8L2

Ensembl transcript ID

ENST00000374277

Genbank transcript ID

NM_001630

UniProt peptide

Q5VT79

alteration type

single base exchange

alteration region

CDS

DNA changes

c.576T>G
cDNA.698T>G
g.9727T>G

AA changes

N192K Score: 94 explain score(s)

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

192

frameshift

known variant

Reference ID: rs202221168

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	7811	2212	10023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.936	0.991
	1.034	0.946
(flanking)	0.398	0.767

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	9718	wt: 0.9787 / mu: 0.9854 (marginal change - not scored)	wt: GCGGCAGGCGAGAAT mu: GCGGCAGGCGAGAAG	GGCA\|ggcg
Donor increased	9721	wt: 0.39 / mu: 0.99	wt: GCAGGCGAGAATATT mu: GCAGGCGAGAAGATT	AGGC\|gaga
Donor increased	9723	wt: 0.48 / mu: 0.91	wt: AGGCGAGAATATTCG mu: AGGCGAGAAGATTCG	GCGA\|gaat
Donor gained	9726	0.87	mu: CGAGAAGATTCGTGG	AGAA\|gatt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

not conserved

192

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000013446

197

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021950

192

Ggallus

not conserved

ENSGALG00000005956

193

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
181	247	REPEAT	Annexin 3.	lost
257	322	REPEAT	Annexin 4.	might get lost (downstream of altered splice site)
266	266	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
268	268	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
270	270	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
310	310	METAL	Calcium (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

984 / 984

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

328 / 328

position of stopcodon in wt / mu cDNA

1106 / 1106

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

123 / 123

chromosome

strand

last intron/exon boundary

1047

theoretical NMD boundary in CDS

874

length of CDS

984

coding sequence (CDS) position

576

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

698

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

9727

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

47756662

original gDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered gDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

original cDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered cDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

wildtype AA sequence

MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEDYG SSLEEDIQAD TSGYLERILV CLLQGSRDDV SSFVDPALAL
QDAQDLYAAG ENIRGTDEMK FITILCTRSA THLLRVFEEY EKIANKSIED SIKSETHGSL
EEAMLTVVKC TQNLHSYFAE RLYYAMKGAG TRDGTLIRNI VSRSEIDLNL IKCHFKKMYG
KTLSSMIMED TSGDYKNALL SLVGSDP*

mutated AA sequence

MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEDYG SSLEEDIQAD TSGYLERILV CLLQGSRDDV SSFVDPALAL
QDAQDLYAAG EKIRGTDEMK FITILCTRSA THLLRVFEEY EKIANKSIED SIKSETHGSL
EEAMLTVVKC TQNLHSYFAE RLYYAMKGAG TRDGTLIRNI VSRSEIDLNL IKCHFKKMYG
KTLSSMIMED TSGDYKNALL SLVGSDP*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999881508971668 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:47756662T>GN/A show variant in all transcripts IGV

HGNC symbol

ANXA8L2

Ensembl transcript ID

ENST00000538825

Genbank transcript ID

N/A

UniProt peptide

Q5VT79

alteration type

single base exchange

alteration region

CDS

DNA changes

c.390T>G
cDNA.466T>G
g.9727T>G

AA changes

N130K Score: 94 explain score(s)

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

130

frameshift

known variant

Reference ID: rs202221168

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	7811	2212	10023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.936	0.991
	1.034	0.946
(flanking)	0.398	0.767

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	9718	wt: 0.9787 / mu: 0.9854 (marginal change - not scored)	wt: GCGGCAGGCGAGAAT mu: GCGGCAGGCGAGAAG	GGCA\|ggcg
Donor increased	9721	wt: 0.39 / mu: 0.99	wt: GCAGGCGAGAATATT mu: GCAGGCGAGAAGATT	AGGC\|gaga
Donor increased	9723	wt: 0.48 / mu: 0.91	wt: AGGCGAGAATATTCG mu: AGGCGAGAAGATTCG	GCGA\|gaat
Donor gained	9726	0.87	mu: CGAGAAGATTCGTGG	AGAA\|gatt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

130

mutated

not conserved

130

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000013446

197

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021950

192

Ggallus

not conserved

ENSGALG00000005956

193

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
97	162	REPEAT	Annexin 2.	lost
181	247	REPEAT	Annexin 3.	might get lost (downstream of altered splice site)
257	322	REPEAT	Annexin 4.	might get lost (downstream of altered splice site)
266	266	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
268	268	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
270	270	METAL	Calcium; via carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
310	310	METAL	Calcium (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

798 / 798

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

266 / 266

position of stopcodon in wt / mu cDNA

874 / 874

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

77 / 77

chromosome

strand

last intron/exon boundary

815

theoretical NMD boundary in CDS

688

length of CDS

798

coding sequence (CDS) position

390

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

466

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

9727

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

47756662

original gDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered gDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

original cDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered cDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

wildtype AA sequence

MAWWKAWDLT ETLKSELSGK FERLIVALMY PPYRYEAKEL HDAMKGLGTK EGVIIEILAS
RTKNQLREIM KAYEEDYGSS LEEDIQADTS GYLERILVCL LQGSRDDVSS FVDPALALQD
AQDLYAAGEN IRGTDEMKFI TILCTRSATH LLRVFEEYEK IANKSIEDSI KSETHGSLEE
AMLTVVKCTQ NLHSYFAERL YYAMKGAGTR DGTLIRNIVS RSEIDLNLIK CHFKKMYGKT
LSSMIMEDTS GDYKNALLSL VGSDP*

mutated AA sequence

MAWWKAWDLT ETLKSELSGK FERLIVALMY PPYRYEAKEL HDAMKGLGTK EGVIIEILAS
RTKNQLREIM KAYEEDYGSS LEEDIQADTS GYLERILVCL LQGSRDDVSS FVDPALALQD
AQDLYAAGEK IRGTDEMKFI TILCTRSATH LLRVFEEYEK IANKSIEDSI KSETHGSLEE
AMLTVVKCTQ NLHSYFAERL YYAMKGAGTR DGTLIRNIVS RSEIDLNLIK CHFKKMYGKT
LSSMIMEDTS GDYKNALLSL VGSDP*

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 7.59811910070881e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:47756662T>GN/A show variant in all transcripts IGV

HGNC symbol

ANXA8L2

Ensembl transcript ID

ENST00000449464

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.579T>G
g.9727T>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs202221168

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	7811	2212	10023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.936	0.991
	1.034	0.946
(flanking)	0.398	0.767

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

splice sites

splice site change occurs after stopcodon (at aa 163) splice site change occurs after stopcodon (at aa 164) splice site change occurs after stopcodon (at aa 165)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	9718	wt: 0.9787 / mu: 0.9854 (marginal change - not scored)	wt: GCGGCAGGCGAGAAT mu: GCGGCAGGCGAGAAG	GGCA\|ggcg
Donor increased	9721	wt: 0.39 / mu: 0.99	wt: GCAGGCGAGAATATT mu: GCAGGCGAGAAGATT	AGGC\|gaga
Donor increased	9723	wt: 0.48 / mu: 0.91	wt: AGGCGAGAATATTCG mu: AGGCGAGAAGATTCG	GCGA\|gaat
Donor gained	9726	0.87	mu: CGAGAAGATTCGTGG	AGAA\|gatt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

84 / 84

chromosome

strand

last intron/exon boundary

1065

theoretical NMD boundary in CDS

931

length of CDS

426

coding sequence (CDS) position

N/A

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

579

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

9727

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

47756662

original gDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered gDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

original cDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered cDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

wildtype AA sequence

MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEGQQ G*

mutated AA sequence

N/A

speed

0.95 s

Problems

data problem

No NCBI gene ID found for this transcript

back to results table