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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000357568
Querying Taster for transcript #2: ENST00000349748
Querying Taster for transcript #3: ENST00000397163
Querying Taster for transcript #4: ENST00000356316
Querying Taster for transcript #5: ENST00000318023
MT speed 0 s - this script 5.25271 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CAPN3	polymorphism_automatic	0.036297202842742	simple_aae				A236T	single base exchange	rs1801449		show file
CAPN3	polymorphism_automatic	0.036297202842742	simple_aae				A236T	single base exchange	rs1801449		show file
CAPN3	polymorphism_automatic	0.036297202842742	simple_aae				A236T	single base exchange	rs1801449		show file
CAPN3	polymorphism_automatic	0.036297202842742	simple_aae				A149T	single base exchange	rs1801449		show file
CAPN3	polymorphism_automatic	0.036297202842742	simple_aae				A236T	single base exchange	rs1801449		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.963702797157258 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM099258)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:42681199G>AN/A show variant in all transcripts IGV

HGNC symbol

CAPN3

Ensembl transcript ID

ENST00000357568

Genbank transcript ID

NM_024344

UniProt peptide

P20807

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.927G>A
g.40899G>A

AA changes

A236T Score: 58 explain score(s)

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

236

frameshift

known variant

Reference ID: rs1801449

database	homozygous (A/A)	heterozygous	allele carriers
1000G	379	595	974
ExAC	2578	9872	12450

known disease mutation at this position, please check HGMD for details (HGMD ID CM099258)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.548	1
	3.483	1
(flanking)	6.092	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
Donor marginally increased	40890	wt: 0.7963 / mu: 0.8530 (marginal change - not scored)	wt: TCACAGGAGGGGTGG mu: TCACAGGAGGGGTGA	ACAG\|gagg
Donor marginally increased	40892	wt: 0.4647 / mu: 0.4861 (marginal change - not scored)	wt: ACAGGAGGGGTGGCA mu: ACAGGAGGGGTGACA	AGGA\|gggg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000001534

236

Fcatus

not conserved

ENSFCAG00000018326

109

Mmusculus

not conserved

ENSMUSG00000079110

236

Ggallus

not conserved

ENSGALG00000009050

230

Trubripes

not conserved

ENSTRUG00000006900

217

Drerio

not conserved

ENSDARG00000041864

217

Dmelanogaster

not conserved

FBgn0025866

421

Celegans

not conserved

C06G4.2

478

Xtropicalis

not conserved

ENSXETG00000012304

133

protein features

start (aa)	end (aa)	feature	details
74	417	DOMAIN	Calpain catalytic.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2448 / 2448

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

816 / 816

position of stopcodon in wt / mu cDNA

2669 / 2669

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

222 / 222

chromosome

strand

last intron/exon boundary

2643

theoretical NMD boundary in CDS

2371

length of CDS

2448

coding sequence (CDS) position

706

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

927

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

40899

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

42681199

original gDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered gDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

original cDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered cDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

wildtype AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW
GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA
LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF
LVALMQKNRR KDRKLGASLF TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM
REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVPIIFVS
DRANSNKELG VDQESEEGKG KTSPDKQKQS PQPQPGSSDQ ESEEQQQFRN IFKQIAGDDM
EICADELKKV LNTVVNKHKD LKTHGFTLES CRSMIALMDT DGSGKLNLQE FHHLWNKIKA
WQKIFKHYDT DQSGTINSYE MRNAVNDAGF HLNNQLYDII TMRYADKHMN IDFDSFICCF
VRLEGMFRAF HAFDKDGDGI IKLNVLEWLQ LTMYA*

mutated AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVTEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW
GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA
LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF
LVALMQKNRR KDRKLGASLF TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM
REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVPIIFVS
DRANSNKELG VDQESEEGKG KTSPDKQKQS PQPQPGSSDQ ESEEQQQFRN IFKQIAGDDM
EICADELKKV LNTVVNKHKD LKTHGFTLES CRSMIALMDT DGSGKLNLQE FHHLWNKIKA
WQKIFKHYDT DQSGTINSYE MRNAVNDAGF HLNNQLYDII TMRYADKHMN IDFDSFICCF
VRLEGMFRAF HAFDKDGDGI IKLNVLEWLQ LTMYA*

speed

0.95 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: 0.963702797157258 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM099258)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:42681199G>AN/A show variant in all transcripts IGV

HGNC symbol

CAPN3

Ensembl transcript ID

ENST00000349748

Genbank transcript ID

NM_173087

UniProt peptide

P20807

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.927G>A
g.40899G>A

AA changes

A236T Score: 58 explain score(s)

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

236

frameshift

known variant

Reference ID: rs1801449

database	homozygous (A/A)	heterozygous	allele carriers
1000G	379	595	974
ExAC	2578	9872	12450

known disease mutation at this position, please check HGMD for details (HGMD ID CM099258)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.548	1
	3.483	1
(flanking)	6.092	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
Donor marginally increased	40890	wt: 0.7963 / mu: 0.8530 (marginal change - not scored)	wt: TCACAGGAGGGGTGG mu: TCACAGGAGGGGTGA	ACAG\|gagg
Donor marginally increased	40892	wt: 0.4647 / mu: 0.4861 (marginal change - not scored)	wt: ACAGGAGGGGTGGCA mu: ACAGGAGGGGTGACA	AGGA\|gggg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000001534

236

Fcatus

not conserved

ENSFCAG00000018326

109

Mmusculus

not conserved

ENSMUSG00000079110

236

Ggallus

not conserved

ENSGALG00000009050

230

Trubripes

not conserved

ENSTRUG00000006900

217

Drerio

not conserved

ENSDARG00000041864

217

Dmelanogaster

not conserved

FBgn0025866

421

Celegans

not conserved

C06G4.2

478

Xtropicalis

not conserved

ENSXETG00000012304

133

protein features

start (aa)	end (aa)	feature	details
74	417	DOMAIN	Calpain catalytic.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2190 / 2190

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

730 / 730

position of stopcodon in wt / mu cDNA

2411 / 2411

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

222 / 222

chromosome

strand

last intron/exon boundary

2385

theoretical NMD boundary in CDS

2113

length of CDS

2190

coding sequence (CDS) position

706

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

927

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

40899

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

42681199

original gDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered gDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

original cDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered cDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

wildtype AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDTII PVQYETRMAC GLVRGHAYSV TGLDEVPFKG
EKVKLVRLRN PWGQVEWNGS WSDRWKDWSF VDKDEKARLQ HQVTEDGEFW MSYEDFIYHF
TKLEICNLTA DALQSDKLQT WTVSVNEGRW VRGCSAGGCR NFPDTFWTNP QYRLKLLEED
DDPDDSEVIC SFLVALMQKN RRKDRKLGAS LFTIGFAIYE VPKEMHGNKQ HLQKDFFLYN
ASKARSKTYI NMREVSQRFR LPPSEYVIVP STYEPHQEGE FILRVFSEKR NLSEEVENTI
SVDRPVPQPG SSDQESEEQQ QFRNIFKQIA GDDMEICADE LKKVLNTVVN KHKDLKTHGF
TLESCRSMIA LMDTDGSGKL NLQEFHHLWN KIKAWQKIFK HYDTDQSGTI NSYEMRNAVN
DAGFHLNNQL YDIITMRYAD KHMNIDFDSF ICCFVRLEGM FRAFHAFDKD GDGIIKLNVL
EWLQLTMYA*

mutated AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVTEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDTII PVQYETRMAC GLVRGHAYSV TGLDEVPFKG
EKVKLVRLRN PWGQVEWNGS WSDRWKDWSF VDKDEKARLQ HQVTEDGEFW MSYEDFIYHF
TKLEICNLTA DALQSDKLQT WTVSVNEGRW VRGCSAGGCR NFPDTFWTNP QYRLKLLEED
DDPDDSEVIC SFLVALMQKN RRKDRKLGAS LFTIGFAIYE VPKEMHGNKQ HLQKDFFLYN
ASKARSKTYI NMREVSQRFR LPPSEYVIVP STYEPHQEGE FILRVFSEKR NLSEEVENTI
SVDRPVPQPG SSDQESEEQQ QFRNIFKQIA GDDMEICADE LKKVLNTVVN KHKDLKTHGF
TLESCRSMIA LMDTDGSGKL NLQEFHHLWN KIKAWQKIFK HYDTDQSGTI NSYEMRNAVN
DAGFHLNNQL YDIITMRYAD KHMNIDFDSF ICCFVRLEGM FRAFHAFDKD GDGIIKLNVL
EWLQLTMYA*

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.963702797157258 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM099258)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:42681199G>AN/A show variant in all transcripts IGV

HGNC symbol

CAPN3

Ensembl transcript ID

ENST00000397163

Genbank transcript ID

NM_000070

UniProt peptide

P20807

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.925G>A
g.40899G>A

AA changes

A236T Score: 58 explain score(s)

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

236

frameshift

known variant

Reference ID: rs1801449

database	homozygous (A/A)	heterozygous	allele carriers
1000G	379	595	974
ExAC	2578	9872	12450

known disease mutation at this position, please check HGMD for details (HGMD ID CM099258)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.548	1
	3.483	1
(flanking)	6.092	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
Donor marginally increased	40890	wt: 0.7963 / mu: 0.8530 (marginal change - not scored)	wt: TCACAGGAGGGGTGG mu: TCACAGGAGGGGTGA	ACAG\|gagg
Donor marginally increased	40892	wt: 0.4647 / mu: 0.4861 (marginal change - not scored)	wt: ACAGGAGGGGTGGCA mu: ACAGGAGGGGTGACA	AGGA\|gggg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000001534

236

Fcatus

not conserved

ENSFCAG00000018326

109

Mmusculus

not conserved

ENSMUSG00000079110

236

Ggallus

not conserved

ENSGALG00000009050

230

Trubripes

not conserved

ENSTRUG00000006900

217

Drerio

not conserved

ENSDARG00000041864

217

Dmelanogaster

not conserved

FBgn0025866

421

Celegans

not conserved

C06G4.2

478

Xtropicalis

not conserved

ENSXETG00000012304

133

protein features

start (aa)	end (aa)	feature	details
74	417	DOMAIN	Calpain catalytic.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2466 / 2466

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

822 / 822

position of stopcodon in wt / mu cDNA

2685 / 2685

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

220 / 220

chromosome

strand

last intron/exon boundary

2659

theoretical NMD boundary in CDS

2389

length of CDS

2466

coding sequence (CDS) position

706

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

925

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

40899

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

42681199

original gDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered gDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

original cDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered cDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

wildtype AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW
GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA
LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF
LVALMQKNRR KDRKLGASLF TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM
REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVKKKKTK
PIIFVSDRAN SNKELGVDQE SEEGKGKTSP DKQKQSPQPQ PGSSDQESEE QQQFRNIFKQ
IAGDDMEICA DELKKVLNTV VNKHKDLKTH GFTLESCRSM IALMDTDGSG KLNLQEFHHL
WNKIKAWQKI FKHYDTDQSG TINSYEMRNA VNDAGFHLNN QLYDIITMRY ADKHMNIDFD
SFICCFVRLE GMFRAFHAFD KDGDGIIKLN VLEWLQLTMY A*

mutated AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVTEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW
GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA
LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF
LVALMQKNRR KDRKLGASLF TIGFAIYEVP KEMHGNKQHL QKDFFLYNAS KARSKTYINM
REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVKKKKTK
PIIFVSDRAN SNKELGVDQE SEEGKGKTSP DKQKQSPQPQ PGSSDQESEE QQQFRNIFKQ
IAGDDMEICA DELKKVLNTV VNKHKDLKTH GFTLESCRSM IALMDTDGSG KLNLQEFHHL
WNKIKAWQKI FKHYDTDQSG TINSYEMRNA VNDAGFHLNN QLYDIITMRY ADKHMNIDFD
SFICCFVRLE GMFRAFHAFD KDGDGIIKLN VLEWLQLTMY A*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.963702797157258 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM099258)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:42681199G>AN/A show variant in all transcripts IGV

HGNC symbol

CAPN3

Ensembl transcript ID

ENST00000356316

Genbank transcript ID

N/A

UniProt peptide

P20807

alteration type

single base exchange

alteration region

CDS

DNA changes

c.445G>A
cDNA.937G>A
g.40899G>A

AA changes

A149T Score: 58 explain score(s)

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

149

frameshift

known variant

Reference ID: rs1801449

database	homozygous (A/A)	heterozygous	allele carriers
1000G	379	595	974
ExAC	2578	9872	12450

known disease mutation at this position, please check HGMD for details (HGMD ID CM099258)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.548	1
	3.483	1
(flanking)	6.092	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
Donor marginally increased	40890	wt: 0.7963 / mu: 0.8530 (marginal change - not scored)	wt: TCACAGGAGGGGTGG mu: TCACAGGAGGGGTGA	ACAG\|gagg
Donor marginally increased	40892	wt: 0.4647 / mu: 0.4861 (marginal change - not scored)	wt: ACAGGAGGGGTGGCA mu: ACAGGAGGGGTGACA	AGGA\|gggg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

149

mutated

not conserved

149

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000001534

236

Fcatus

not conserved

ENSFCAG00000018326

109

Mmusculus

not conserved

ENSMUSG00000079110

236

Ggallus

not conserved

ENSGALG00000009050

230

Trubripes

not conserved

ENSTRUG00000006900

217

Drerio

not conserved

ENSDARG00000041864

217

Dmelanogaster

not conserved

FBgn0025866

421

Celegans

not conserved

C06G4.2

478

Xtropicalis

not conserved

ENSXETG00000012304

133

protein features

start (aa)	end (aa)	feature	details
74	417	DOMAIN	Calpain catalytic.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2187 / 2187

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

729 / 729

position of stopcodon in wt / mu cDNA

2679 / 2679

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

493 / 493

chromosome

strand

last intron/exon boundary

2653

theoretical NMD boundary in CDS

2110

length of CDS

2187

coding sequence (CDS) position

445

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

937

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

40899

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

42681199

original gDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered gDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

original cDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered cDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

wildtype AA sequence

MSWQISLKTQ TTQQKNEICE NPRFIIDGAN RTDICQGELG DCWFLAAIAC LTLNQHLLFR
VIPHDQSFIE NYAGIFHFQF WRYGEWVDVV IDDCLPTYNN QLVFTKSNHR NEFWSALLEK
AYAKLHGSYE ALKGGNTTEA MEDFTGGVAE FFEIRDAPSD MYKIMKKAIE RGSLMGCSID
DGTNMTYGTS PSGLNMGELI ARMVRNMDNS LLQDSDLDPR GSDERPTRTI IPVQYETRMA
CGLVRGHAYS VTGLDEVPFK GEKVKLVRLR NPWGQVEWNG SWSDRWKDWS FVDKDEKARL
QHQVTEDGEF WMSYEDFIYH FTKLEICNLT ADALQSDKLQ TWTVSVNEGR WVRGCSAGGC
RNFPDTFWTN PQYRLKLLEE DDDPDDSEVI CSFLVALMQK NRRKDRKLGA SLFTIGFAIY
EVPKEMHGNK QHLQKDFFLY NASKARSKTY INMREVSQRF RLPPSEYVIV PSTYEPHQEG
EFILRVFSEK RNLSEEVENT ISVDRPVPII FVSDRANSNK ELGVDQESEE GKGKTSPDKQ
KQSPQPQPGS SDQESEEQQQ FRNIFKQIAG DDMEICADEL KKVLNTVVNK HKDLKTHGFT
LESCRSMIAL MDTDGSGKLN LQEFHHLWNK IKAWQKIFKH YDTDQSGTIN SYEMRNAVND
AGFHLNNQLY DIITMRYADK HMNIDFDSFI CCFVRLEGMF RAFHAFDKDG DGIIKLNVLE
WLQLTMYA*

mutated AA sequence

MSWQISLKTQ TTQQKNEICE NPRFIIDGAN RTDICQGELG DCWFLAAIAC LTLNQHLLFR
VIPHDQSFIE NYAGIFHFQF WRYGEWVDVV IDDCLPTYNN QLVFTKSNHR NEFWSALLEK
AYAKLHGSYE ALKGGNTTEA MEDFTGGVTE FFEIRDAPSD MYKIMKKAIE RGSLMGCSID
DGTNMTYGTS PSGLNMGELI ARMVRNMDNS LLQDSDLDPR GSDERPTRTI IPVQYETRMA
CGLVRGHAYS VTGLDEVPFK GEKVKLVRLR NPWGQVEWNG SWSDRWKDWS FVDKDEKARL
QHQVTEDGEF WMSYEDFIYH FTKLEICNLT ADALQSDKLQ TWTVSVNEGR WVRGCSAGGC
RNFPDTFWTN PQYRLKLLEE DDDPDDSEVI CSFLVALMQK NRRKDRKLGA SLFTIGFAIY
EVPKEMHGNK QHLQKDFFLY NASKARSKTY INMREVSQRF RLPPSEYVIV PSTYEPHQEG
EFILRVFSEK RNLSEEVENT ISVDRPVPII FVSDRANSNK ELGVDQESEE GKGKTSPDKQ
KQSPQPQPGS SDQESEEQQQ FRNIFKQIAG DDMEICADEL KKVLNTVVNK HKDLKTHGFT
LESCRSMIAL MDTDGSGKLN LQEFHHLWNK IKAWQKIFKH YDTDQSGTIN SYEMRNAVND
AGFHLNNQLY DIITMRYADK HMNIDFDSFI CCFVRLEGMF RAFHAFDKDG DGIIKLNVLE
WLQLTMYA*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.963702797157258 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM099258)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:42681199G>AN/A show variant in all transcripts IGV

HGNC symbol

CAPN3

Ensembl transcript ID

ENST00000318023

Genbank transcript ID

N/A

UniProt peptide

P20807

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.927G>A
g.40899G>A

AA changes

A236T Score: 58 explain score(s)

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

236

frameshift

known variant

Reference ID: rs1801449

database	homozygous (A/A)	heterozygous	allele carriers
1000G	379	595	974
ExAC	2578	9872	12450

known disease mutation at this position, please check HGMD for details (HGMD ID CM099258)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.548	1
	3.483	1
(flanking)	6.092	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
Donor marginally increased	40890	wt: 0.7963 / mu: 0.8530 (marginal change - not scored)	wt: TCACAGGAGGGGTGG mu: TCACAGGAGGGGTGA	ACAG\|gagg
Donor marginally increased	40892	wt: 0.4647 / mu: 0.4861 (marginal change - not scored)	wt: ACAGGAGGGGTGGCA mu: ACAGGAGGGGTGACA	AGGA\|gggg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000001534

236

Fcatus

not conserved

ENSFCAG00000018326

109

Mmusculus

not conserved

ENSMUSG00000079110

236

Ggallus

not conserved

ENSGALG00000009050

230

Trubripes

not conserved

ENSTRUG00000006900

217

Drerio

not conserved

ENSDARG00000041864

217

Dmelanogaster

not conserved

FBgn0025866

421

Celegans

not conserved

C06G4.2

478

Xtropicalis

not conserved

ENSXETG00000012304

133

protein features

start (aa)	end (aa)	feature	details
74	417	DOMAIN	Calpain catalytic.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2448 / 2448

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

816 / 816

position of stopcodon in wt / mu cDNA

2669 / 2669

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

222 / 222

chromosome

strand

last intron/exon boundary

2643

theoretical NMD boundary in CDS

2371

length of CDS

2448

coding sequence (CDS) position

706

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

927

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

40899

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

42681199

original gDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered gDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

original cDNA sequence snippet

AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG

altered cDNA sequence snippet

AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG

wildtype AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW
GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA
LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF
LVALMQKNRR KDRKLGASLF TIGFAIYEVP HQMHGNKQHL QKDFFLYNAS KARSKTYINM
REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVPIIFVS
DRANSNKELG VDQESEEGKG KTSPDKQKQS PQPQPGSSDQ ESEEQQQFRN IFKQIAGDDM
EICADELKKV LNTVVNKHKD LKTHGFTLES CRSMIALMDT DGSGKLNLQE FHHLWNKIKA
WQKIFKHYDT DQSGTINSYE MRNAVNDAGF HLNNQLYDII TMRYADKHMN IDFDSFICCF
VRLEGMFRAF HAFDKDGDGI IKLNVLEWLQ LTMYA*

mutated AA sequence

MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVTEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDDGT NMTYGTSPSG LNMGELIARM VRNMDNSLLQ
DSDLDPRGSD ERPTRTIIPV QYETRMACGL VRGHAYSVTG LDEVPFKGEK VKLVRLRNPW
GQVEWNGSWS DRWKDWSFVD KDEKARLQHQ VTEDGEFWMS YEDFIYHFTK LEICNLTADA
LQSDKLQTWT VSVNEGRWVR GCSAGGCRNF PDTFWTNPQY RLKLLEEDDD PDDSEVICSF
LVALMQKNRR KDRKLGASLF TIGFAIYEVP HQMHGNKQHL QKDFFLYNAS KARSKTYINM
REVSQRFRLP PSEYVIVPST YEPHQEGEFI LRVFSEKRNL SEEVENTISV DRPVPIIFVS
DRANSNKELG VDQESEEGKG KTSPDKQKQS PQPQPGSSDQ ESEEQQQFRN IFKQIAGDDM
EICADELKKV LNTVVNKHKD LKTHGFTLES CRSMIALMDT DGSGKLNLQE FHHLWNKIKA
WQKIFKHYDT DQSGTINSYE MRNAVNDAGF HLNNQLYDII TMRYADKHMN IDFDSFICCF
VRLEGMFRAF HAFDKDGDGI IKLNVLEWLQ LTMYA*

speed

1.21 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems