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 16 transcript(s)...
Querying Taster for transcript #1: ENST00000338252
Querying Taster for transcript #2: ENST00000508830
Querying Taster for transcript #3: ENST00000395812
Querying Taster for transcript #4: ENST00000510756
Querying Taster for transcript #5: ENST00000508608
Querying Taster for transcript #6: ENST00000341926
Querying Taster for transcript #7: ENST00000511049
Querying Taster for transcript #8: ENST00000309190
Querying Taster for transcript #9: ENST00000509903
Querying Taster for transcript #10: ENST00000511782
Querying Taster for transcript #11: ENST00000504465
Querying Taster for transcript #12: ENST00000508579
Querying Taster for transcript #13: ENST00000515663
Querying Taster for transcript #14: ENST00000395813
Querying Taster for transcript #15: ENST00000359176
Querying Taster for transcript #16: ENST00000325674
MT speed 0 s - this script 8.251251 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C395S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C408S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C386S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C394S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C394S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C131S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	8.99280649946377e-15	simple_aae		affected		C123S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C491S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C450S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C469S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C454S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C336S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C491S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C472S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		C456S	single base exchange	rs754615		show file
CAST	polymorphism_automatic	2.4980018054066e-14	simple_aae		affected		C373S	single base exchange	rs754615		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000338252

Genbank transcript ID

NM_001190442

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1184G>C
cDNA.1451G>C
g.220810G>C

AA changes

C395S Score: 112 explain score(s)

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

395

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

395

mutated

not conserved

395

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2088 / 2088

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

696 / 696

position of stopcodon in wt / mu cDNA

2355 / 2355

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

268 / 268

chromosome

strand

last intron/exon boundary

2379

theoretical NMD boundary in CDS

2061

length of CDS

2088

coding sequence (CDS) position

1184

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

1451

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MNPTETKAIP VSQQMEGPHL PNKKKHKKQA VKTEPEKKSQ STKLSVVHEK KSQEGKPKEH
TEPKSLPKQA SDTGSNDAHN KKAVSRSAEQ QPSEKSTEPK TKPQDMISAG GESVAGITAI
SGKPGDKKKE KKSLTPAVPV ESKPDKPSGK SGMDAALDDL IDTLGGPEET EEENTTYTGP
EVSDPMSSTY IEELGKREVT IPPKYRELLA KPIGPDDAID ALSSDFTCGS PTAAGKKTEK
EESTEVLKAQ SAGTVRSAAP PQEKKRKVEK DTMSDQALEA LSASLGTRQA EPELDLRSIK
EVDEAKAKEE KLEKCGEDDE TIPSEYRLKP ATDKDGKPLL PEPEEKPKPR SESELIDELS
EDFDRSECKE KPSKPTEKTE ESKAAAPAPV SEAVCRTSMC SIQSAPPEPA TLKGTVPDDA
VEALADSLGK KEADPEDGKP VMDKVKEKAK EEDREKLGEK EETIPPDYRL EEVKDKDGKP
LLPKESKEQL PPMSEDFLLD ALSEDFSGPQ NASSLKFEDA KLAAAISEVV SQTPASTTQA
GAPPRDTSQS DKDLDDALDK LSDSLGQRQP DPDENKPMED KVKEKAKAEH RDKLGERDDT
IPPEYRHLLD DNGQDKPVKP PTKKSEDSKK PADDQDPIDA LSGDLDSCPS TTETSQNTAK
DKCKKAASSS KAPKNGGKAK DSAKTTEETS KPKDD*

mutated AA sequence

MNPTETKAIP VSQQMEGPHL PNKKKHKKQA VKTEPEKKSQ STKLSVVHEK KSQEGKPKEH
TEPKSLPKQA SDTGSNDAHN KKAVSRSAEQ QPSEKSTEPK TKPQDMISAG GESVAGITAI
SGKPGDKKKE KKSLTPAVPV ESKPDKPSGK SGMDAALDDL IDTLGGPEET EEENTTYTGP
EVSDPMSSTY IEELGKREVT IPPKYRELLA KPIGPDDAID ALSSDFTCGS PTAAGKKTEK
EESTEVLKAQ SAGTVRSAAP PQEKKRKVEK DTMSDQALEA LSASLGTRQA EPELDLRSIK
EVDEAKAKEE KLEKCGEDDE TIPSEYRLKP ATDKDGKPLL PEPEEKPKPR SESELIDELS
EDFDRSECKE KPSKPTEKTE ESKAAAPAPV SEAVSRTSMC SIQSAPPEPA TLKGTVPDDA
VEALADSLGK KEADPEDGKP VMDKVKEKAK EEDREKLGEK EETIPPDYRL EEVKDKDGKP
LLPKESKEQL PPMSEDFLLD ALSEDFSGPQ NASSLKFEDA KLAAAISEVV SQTPASTTQA
GAPPRDTSQS DKDLDDALDK LSDSLGQRQP DPDENKPMED KVKEKAKAEH RDKLGERDDT
IPPEYRHLLD DNGQDKPVKP PTKKSEDSKK PADDQDPIDA LSGDLDSCPS TTETSQNTAK
DKCKKAASSS KAPKNGGKAK DSAKTTEETS KPKDD*

speed

0.41 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: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000341926

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1223G>C
cDNA.1385G>C
g.220810G>C

AA changes

C408S Score: 112 explain score(s)

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

408

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

408

mutated

not conserved

408

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2127 / 2127

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

709 / 709

position of stopcodon in wt / mu cDNA

2289 / 2289

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

163 / 163

chromosome

strand

last intron/exon boundary

2313

theoretical NMD boundary in CDS

2100

length of CDS

2127

coding sequence (CDS) position

1223

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

1385

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MNPTETKAIP VSQQMEGPHL PNKKKHKKQA VKTEPEKKSQ STKLSVVHEK KSQEGKPKEH
TEPKSLPKQA SDTGSNDAHN KKAVSRSAEQ QPSEKSTEPK TKPQDMISAG GESVAGITAI
SGKPGDKKKE KKSLTPAVPV ESKPDKPSGK SGMDAALDDL IDTLGGPEET EEENTTYTGP
EVSDPMSSTY IEELGKREVT IPPKYRELLA KKEGITGPPA DSSKPIGPDD AIDALSSDFT
CGSPTAAGKK TEKEESTEVL KAQSAGTVRS AAPPQEKKRK VEKDTMSDQA LEALSASLGT
RQAEPELDLR SIKEVDEAKA KEEKLEKCGE DDETIPSEYR LKPATDKDGK PLLPEPEEKP
KPRSESELID ELSEDFDRSE CKEKPSKPTE KTEESKAAAP APVSEAVCRT SMCSIQSAPP
EPATLKGTVP DDAVEALADS LGKKEADPED GKPVMDKVKE KAKEEDREKL GEKEETIPPD
YRLEEVKDKD GKPLLPKESK EQLPPMSEDF LLDALSEDFS GPQNASSLKF EDAKLAAAIS
EVVSQTPAST TQAGAPPRDT SQSDKDLDDA LDKLSDSLGQ RQPDPDENKP MEDKVKEKAK
AEHRDKLGER DDTIPPEYRH LLDDNGQDKP VKPPTKKSED SKKPADDQDP IDALSGDLDS
CPSTTETSQN TAKDKCKKAA SSSKAPKNGG KAKDSAKTTE ETSKPKDD*

mutated AA sequence

MNPTETKAIP VSQQMEGPHL PNKKKHKKQA VKTEPEKKSQ STKLSVVHEK KSQEGKPKEH
TEPKSLPKQA SDTGSNDAHN KKAVSRSAEQ QPSEKSTEPK TKPQDMISAG GESVAGITAI
SGKPGDKKKE KKSLTPAVPV ESKPDKPSGK SGMDAALDDL IDTLGGPEET EEENTTYTGP
EVSDPMSSTY IEELGKREVT IPPKYRELLA KKEGITGPPA DSSKPIGPDD AIDALSSDFT
CGSPTAAGKK TEKEESTEVL KAQSAGTVRS AAPPQEKKRK VEKDTMSDQA LEALSASLGT
RQAEPELDLR SIKEVDEAKA KEEKLEKCGE DDETIPSEYR LKPATDKDGK PLLPEPEEKP
KPRSESELID ELSEDFDRSE CKEKPSKPTE KTEESKAAAP APVSEAVSRT SMCSIQSAPP
EPATLKGTVP DDAVEALADS LGKKEADPED GKPVMDKVKE KAKEEDREKL GEKEETIPPD
YRLEEVKDKD GKPLLPKESK EQLPPMSEDF LLDALSEDFS GPQNASSLKF EDAKLAAAIS
EVVSQTPAST TQAGAPPRDT SQSDKDLDDA LDKLSDSLGQ RQPDPDENKP MEDKVKEKAK
AEHRDKLGER DDTIPPEYRH LLDDNGQDKP VKPPTKKSED SKKPADDQDP IDALSGDLDS
CPSTTETSQN TAKDKCKKAA SSSKAPKNGG KAKDSAKTTE ETSKPKDD*

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000309190

Genbank transcript ID

NM_173060

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1157G>C
cDNA.1311G>C
g.220810G>C

AA changes

C386S Score: 112 explain score(s)

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

386

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

386

mutated

not conserved

386

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

370

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2061 / 2061

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

687 / 687

position of stopcodon in wt / mu cDNA

2215 / 2215

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

155 / 155

chromosome

strand

last intron/exon boundary

2239

theoretical NMD boundary in CDS

2034

length of CDS

2061

coding sequence (CDS) position

1157

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

1311

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MNPTETKAVK TEPEKKSQST KLSVVHEKKS QEGKPKEHTE PKSLPKQASD TGSNDAHNKK
AVSRSAEQQP SEKSTEPKTK PQDMISAGGE SVAGITAISG KPGDKKKEKK SLTPAVPVES
KPDKPSGKSG MDAALDDLID TLGGPEETEE ENTTYTGPEV SDPMSSTYIE ELGKREVTIP
PKYRELLAKK EGITGPPADS SKPIGPDDAI DALSSDFTCG SPTAAGKKTE KEESTEVLKA
QSAGTVRSAA PPQEKKRKVE KDTMSDQALE ALSASLGTRQ AEPELDLRSI KEVDEAKAKE
EKLEKCGEDD ETIPSEYRLK PATDKDGKPL LPEPEEKPKP RSESELIDEL SEDFDRSECK
EKPSKPTEKT EESKAAAPAP VSEAVCRTSM CSIQSAPPEP ATLKGTVPDD AVEALADSLG
KKEADPEDGK PVMDKVKEKA KEEDREKLGE KEETIPPDYR LEEVKDKDGK PLLPKESKEQ
LPPMSEDFLL DALSEDFSGP QNASSLKFED AKLAAAISEV VSQTPASTTQ AGAPPRDTSQ
SDKDLDDALD KLSDSLGQRQ PDPDENKPME DKVKEKAKAE HRDKLGERDD TIPPEYRHLL
DDNGQDKPVK PPTKKSEDSK KPADDQDPID ALSGDLDSCP STTETSQNTA KDKCKKAASS
SKAPKNGGKA KDSAKTTEET SKPKDD*

mutated AA sequence

MNPTETKAVK TEPEKKSQST KLSVVHEKKS QEGKPKEHTE PKSLPKQASD TGSNDAHNKK
AVSRSAEQQP SEKSTEPKTK PQDMISAGGE SVAGITAISG KPGDKKKEKK SLTPAVPVES
KPDKPSGKSG MDAALDDLID TLGGPEETEE ENTTYTGPEV SDPMSSTYIE ELGKREVTIP
PKYRELLAKK EGITGPPADS SKPIGPDDAI DALSSDFTCG SPTAAGKKTE KEESTEVLKA
QSAGTVRSAA PPQEKKRKVE KDTMSDQALE ALSASLGTRQ AEPELDLRSI KEVDEAKAKE
EKLEKCGEDD ETIPSEYRLK PATDKDGKPL LPEPEEKPKP RSESELIDEL SEDFDRSECK
EKPSKPTEKT EESKAAAPAP VSEAVSRTSM CSIQSAPPEP ATLKGTVPDD AVEALADSLG
KKEADPEDGK PVMDKVKEKA KEEDREKLGE KEETIPPDYR LEEVKDKDGK PLLPKESKEQ
LPPMSEDFLL DALSEDFSGP QNASSLKFED AKLAAAISEV VSQTPASTTQ AGAPPRDTSQ
SDKDLDDALD KLSDSLGQRQ PDPDENKPME DKVKEKAKAE HRDKLGERDD TIPPEYRHLL
DDNGQDKPVK PPTKKSEDSK KPADDQDPID ALSGDLDSCP STTETSQNTA KDKCKKAASS
SKAPKNGGKA KDSAKTTEET SKPKDD*

speed

0.73 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000511049

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1181G>C
cDNA.1418G>C
g.220810G>C

AA changes

C394S Score: 112 explain score(s)

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

394

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

394

mutated

not conserved

394

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2082 / 2082

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

694 / 694

position of stopcodon in wt / mu cDNA

2319 / 2319

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

238 / 238

chromosome

strand

last intron/exon boundary

2343

theoretical NMD boundary in CDS

2055

length of CDS

2082

coding sequence (CDS) position

1181

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

1418

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MEGPHLPNKK KHKKQAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVCRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSSDK DLDDALDKLS DSLGQRQPDP DENKPMEDKV KEKAKAEHRD KLGERDDTIP
PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA DDQDPIDALS GDLDSCPSTT ETSQNTAKDK
CKKAASSSKA PKNGGKAKDS AKTTEETSKP KDD*

mutated AA sequence

MEGPHLPNKK KHKKQAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVSRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSSDK DLDDALDKLS DSLGQRQPDP DENKPMEDKV KEKAKAEHRD KLGERDDTIP
PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA DDQDPIDALS GDLDSCPSTT ETSQNTAKDK
CKKAASSSKA PKNGGKAKDS AKTTEETSKP KDD*

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000511782

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1181G>C
cDNA.1392G>C
g.220810G>C

AA changes

C394S Score: 112 explain score(s)

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

394

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

394

mutated

not conserved

394

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2085 / 2085

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

695 / 695

position of stopcodon in wt / mu cDNA

2296 / 2296

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

212 / 212

chromosome

strand

last intron/exon boundary

2320

theoretical NMD boundary in CDS

2058

length of CDS

2085

coding sequence (CDS) position

1181

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

1392

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MEGPHLPNKK KHKKQAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVCRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSQSD KDLDDALDKL SDSLGQRQPD PDENKPMEDK VKEKAKAEHR DKLGERDDTI
PPEYRHLLDD NGQDKPVKPP TKKSEDSKKP ADDQDPIDAL SGDLDSCPST TETSQNTAKD
KCKKAASSSK APKNGGKAKD SAKTTEETSK PKDD*

mutated AA sequence

MEGPHLPNKK KHKKQAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVSRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSQSD KDLDDALDKL SDSLGQRQPD PDENKPMEDK VKEKAKAEHR DKLGERDDTI
PPEYRHLLDD NGQDKPVKPP TKKSEDSKKP ADDQDPIDAL SGDLDSCPST TETSQNTAKD
KCKKAASSSK APKNGGKAKD SAKTTEETSK PKDD*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000515663

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.392G>C
cDNA.479G>C
g.220810G>C

AA changes

C131S Score: 112 explain score(s)

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

131

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

131

mutated

not conserved

131

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

370

Trubripes

not conserved

ENSTRUG00000014934

119

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
142	142	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
170	222	REPEAT	Inhibitory domain 1.	might get lost (downstream of altered splice site)
222	222	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
243	243	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
304	356	REPEAT	Inhibitory domain 2.	might get lost (downstream of altered splice site)
364	364	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
366	366	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
373	373	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

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

432 / 432

position of stopcodon in wt / mu cDNA

1383 / 1383

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

88 / 88

chromosome

strand

last intron/exon boundary

1407

theoretical NMD boundary in CDS

1269

length of CDS

1296

coding sequence (CDS) position

392

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

479

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MGQFLSSTFL EGSPATVWHD KLCDGERRGA REAVRIFQDQ AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV CRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*

mutated AA sequence

MGQFLSSTFL EGSPATVWHD KLCDGERRGA REAVRIFQDQ AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV SRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999991 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000508579

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.368G>C
cDNA.657G>C
g.220810G>C

AA changes

C123S Score: 112 explain score(s)

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

123

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

123

mutated

not conserved

123

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

452

Ggallus

not conserved

ENSGALG00000014682

375

Trubripes

not conserved

ENSTRUG00000014934

117

Drerio

not conserved

ENSDARG00000058693

470

TKDIPKTK

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
142	142	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
170	222	REPEAT	Inhibitory domain 1.	might get lost (downstream of altered splice site)
222	222	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
243	243	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
304	356	REPEAT	Inhibitory domain 2.	might get lost (downstream of altered splice site)
364	364	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
366	366	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
373	373	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1272 / 1272

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

424 / 424

position of stopcodon in wt / mu cDNA

1561 / 1561

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

290 / 290

chromosome

strand

last intron/exon boundary

1585

theoretical NMD boundary in CDS

1245

length of CDS

1272

coding sequence (CDS) position

368

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

657

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSDQALEALS ASLGTRQAEP ELDLRSIKEV DEAKAKEEKL EKCGEDDETI PSEYRLKPAT
DKDGKPLLPE PEEKPKPRSE SELIDELSED FDRSECKEKP SKPTEKTEES KAAAPAPVSE
AVCRTSMCSI QSAPPEPATL KGTVPDDAVE ALADSLGKKE ADPEDGKPVM DKVKEKAKEE
DREKLGEKEE TIPPDYRLEE VKDKDGKPLL PKESKEQLPP MSEDFLLDAL SEDFSGPQNA
SSLKFEDAKL AAAISEVVSQ TPASTTQAGA PPRDTSQSDK DLDDALDKLS DSLGQRQPDP
DENKPMEDKV KEKAKAEHRD KLGERDDTIP PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA
DDQDPIDALS GDLDSCPSTT ETSQNTAKDK CKKAASSSKA PKNGGKAKDS AKTTEETSKP
KDD*

mutated AA sequence

MSDQALEALS ASLGTRQAEP ELDLRSIKEV DEAKAKEEKL EKCGEDDETI PSEYRLKPAT
DKDGKPLLPE PEEKPKPRSE SELIDELSED FDRSECKEKP SKPTEKTEES KAAAPAPVSE
AVSRTSMCSI QSAPPEPATL KGTVPDDAVE ALADSLGKKE ADPEDGKPVM DKVKEKAKEE
DREKLGEKEE TIPPDYRLEE VKDKDGKPLL PKESKEQLPP MSEDFLLDAL SEDFSGPQNA
SSLKFEDAKL AAAISEVVSQ TPASTTQAGA PPRDTSQSDK DLDDALDKLS DSLGQRQPDP
DENKPMEDKV KEKAKAEHRD KLGERDDTIP PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA
DDQDPIDALS GDLDSCPSTT ETSQNTAKDK CKKAASSSKA PKNGGKAKDS AKTTEETSKP
KDD*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000508830

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1472G>C
cDNA.1635G>C
g.220810G>C

AA changes

C491S Score: 112 explain score(s)

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

491

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

491

mutated

not conserved

491

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2376 / 2376

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

792 / 792

position of stopcodon in wt / mu cDNA

2539 / 2539

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

164 / 164

chromosome

strand

last intron/exon boundary

2504

theoretical NMD boundary in CDS

2290

length of CDS

2376

coding sequence (CDS) position

1472

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

1635

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKLSVV HEKKSQEGKP KEHTEPKSLP KQASDTGSND AHNKKAVSRS AEQQPSEKST
EPKTKPQDMI SAGGESVAGI TAISGKPGDK KKEKKSLTPA VPVESKPDKP SGKSGMDAAL
DDLIDTLGGP EETEEENTTY TGPEVSDPMS STYIEELGKR EVTIPPKYRE LLAKKEGITG
PPADSSKPIG PDDAIDALSS DFTCGSPTAA GKKTEKEEST EVLKAQSAGT VRSAAPPQEK
KRKVEKDTMS DQALEALSAS LGTRQAEPEL DLRSIKEVDE AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV CRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*

mutated AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKLSVV HEKKSQEGKP KEHTEPKSLP KQASDTGSND AHNKKAVSRS AEQQPSEKST
EPKTKPQDMI SAGGESVAGI TAISGKPGDK KKEKKSLTPA VPVESKPDKP SGKSGMDAAL
DDLIDTLGGP EETEEENTTY TGPEVSDPMS STYIEELGKR EVTIPPKYRE LLAKKEGITG
PPADSSKPIG PDDAIDALSS DFTCGSPTAA GKKTEKEEST EVLKAQSAGT VRSAAPPQEK
KRKVEKDTMS DQALEALSAS LGTRQAEPEL DLRSIKEVDE AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV SRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*

speed

0.74 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000395812

Genbank transcript ID

NM_001042440

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1349G>C
cDNA.1535G>C
g.220810G>C

AA changes

C450S Score: 112 explain score(s)

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

450

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

450

mutated

not conserved

450

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

470

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2253 / 2253

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

751 / 751

position of stopcodon in wt / mu cDNA

2439 / 2439

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

187 / 187

chromosome

strand

last intron/exon boundary

2463

theoretical NMD boundary in CDS

2226

length of CDS

2253

coding sequence (CDS) position

1349

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

1535

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKPKSLPK QASDTGSNDA
HNKKAVSRSA EQQPSEKSTE PKTKPQDMIS AGGESVAGIT AISGKPGDKK KEKKSLTPAV
PVESKPDKPS GKSGMDAALD DLIDTLGGPE ETEEENTTYT GPEVSDPMSS TYIEELGKRE
VTIPPKYREL LAKKEGITGP PADSSKPIGP DDAIDALSSD FTCGSPTAAG KKTEKEESTE
VLKAQSAGTV RSAAPPQEKK RKVEKDTMSD QALEALSASL GTRQAEPELD LRSIKEVDEA
KAKEEKLEKC GEDDETIPSE YRLKPATDKD GKPLLPEPEE KPKPRSESEL IDELSEDFDR
SECKEKPSKP TEKTEESKAA APAPVSEAVC RTSMCSIQSA PPEPATLKGT VPDDAVEALA
DSLGKKEADP EDGKPVMDKV KEKAKEEDRE KLGEKEETIP PDYRLEEVKD KDGKPLLPKE
SKEQLPPMSE DFLLDALSED FSGPQNASSL KFEDAKLAAA ISEVVSQTPA STTQAGAPPR
DTSQSDKDLD DALDKLSDSL GQRQPDPDEN KPMEDKVKEK AKAEHRDKLG ERDDTIPPEY
RHLLDDNGQD KPVKPPTKKS EDSKKPADDQ DPIDALSGDL DSCPSTTETS QNTAKDKCKK
AASSSKAPKN GGKAKDSAKT TEETSKPKDD *

mutated AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKPKSLPK QASDTGSNDA
HNKKAVSRSA EQQPSEKSTE PKTKPQDMIS AGGESVAGIT AISGKPGDKK KEKKSLTPAV
PVESKPDKPS GKSGMDAALD DLIDTLGGPE ETEEENTTYT GPEVSDPMSS TYIEELGKRE
VTIPPKYREL LAKKEGITGP PADSSKPIGP DDAIDALSSD FTCGSPTAAG KKTEKEESTE
VLKAQSAGTV RSAAPPQEKK RKVEKDTMSD QALEALSASL GTRQAEPELD LRSIKEVDEA
KAKEEKLEKC GEDDETIPSE YRLKPATDKD GKPLLPEPEE KPKPRSESEL IDELSEDFDR
SECKEKPSKP TEKTEESKAA APAPVSEAVS RTSMCSIQSA PPEPATLKGT VPDDAVEALA
DSLGKKEADP EDGKPVMDKV KEKAKEEDRE KLGEKEETIP PDYRLEEVKD KDGKPLLPKE
SKEQLPPMSE DFLLDALSED FSGPQNASSL KFEDAKLAAA ISEVVSQTPA STTQAGAPPR
DTSQSDKDLD DALDKLSDSL GQRQPDPDEN KPMEDKVKEK AKAEHRDKLG ERDDTIPPEY
RHLLDDNGQD KPVKPPTKKS EDSKKPADDQ DPIDALSGDL DSCPSTTETS QNTAKDKCKK
AASSSKAPKN GGKAKDSAKT TEETSKPKDD *

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000510756

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1406G>C
cDNA.1406G>C
g.220810G>C

AA changes

C469S Score: 112 explain score(s)

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

469

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

469

mutated

not conserved

469

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

370

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

470

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2310 / 2310

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

770 / 770

position of stopcodon in wt / mu cDNA

2310 / 2310

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

1 / 1

chromosome

strand

last intron/exon boundary

2275

theoretical NMD boundary in CDS

2224

length of CDS

2310

coding sequence (CDS) position

1406

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

1406

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKLSVVHE KKSQEGKPKE
HTEPKSLPKQ ASDTGSNDAH NKKAVSRSAE QQPSEKSTEP KTKPQDMISA GGESVAGITA
ISGKPGDKKK EKKSLTPAVP VESKPDKPSG KSGMDAALDD LIDTLGGPEE TEEENTTYTG
PEVSDPMSST YIEELGKREV TIPPKYRELL AKKEGITGPP ADSSKPIGPD DAIDALSSDF
TCGSPTAAGK KTEKEESTEV LKAQSAGTVR SAAPPQEKKR KVEKDTMSDQ ALEALSASLG
TRQAEPELDL RSIKEVDEAK AKEEKLEKCG EDDETIPSEY RLKPATDKDG KPLLPEPEEK
PKPRSESELI DELSEDFDRS ECKEKPSKPT EKTEESKAAA PAPVSEAVCR TSMCSIQSAP
PEPATLKGTV PDDAVEALAD SLGKKEADPE DGKPVMDKVK EKAKEEDREK LGEKEETIPP
DYRLEEVKDK DGKPLLPKES KEQLPPMSED FLLDALSEDF SGPQNASSLK FEDAKLAAAI
SEVVSQTPAS TTQAGAPPRD TSQSDKDLDD ALDKLSDSLG QRQPDPDENK PMEDKVKEKA
KAEHRDKLGE RDDTIPPEYR HLLDDNGQDK PVKPPTKKSE DSKKPADDQD PIDALSGDLD
SCPSTTETSQ NTAKDKCKKA ASSSKAPKNG GKAKDSAKTT EETSKPKDD*

mutated AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKLSVVHE KKSQEGKPKE
HTEPKSLPKQ ASDTGSNDAH NKKAVSRSAE QQPSEKSTEP KTKPQDMISA GGESVAGITA
ISGKPGDKKK EKKSLTPAVP VESKPDKPSG KSGMDAALDD LIDTLGGPEE TEEENTTYTG
PEVSDPMSST YIEELGKREV TIPPKYRELL AKKEGITGPP ADSSKPIGPD DAIDALSSDF
TCGSPTAAGK KTEKEESTEV LKAQSAGTVR SAAPPQEKKR KVEKDTMSDQ ALEALSASLG
TRQAEPELDL RSIKEVDEAK AKEEKLEKCG EDDETIPSEY RLKPATDKDG KPLLPEPEEK
PKPRSESELI DELSEDFDRS ECKEKPSKPT EKTEESKAAA PAPVSEAVSR TSMCSIQSAP
PEPATLKGTV PDDAVEALAD SLGKKEADPE DGKPVMDKVK EKAKEEDREK LGEKEETIPP
DYRLEEVKDK DGKPLLPKES KEQLPPMSED FLLDALSEDF SGPQNASSLK FEDAKLAAAI
SEVVSQTPAS TTQAGAPPRD TSQSDKDLDD ALDKLSDSLG QRQPDPDENK PMEDKVKEKA
KAEHRDKLGE RDDTIPPEYR HLLDDNGQDK PVKPPTKKSE DSKKPADDQD PIDALSGDLD
SCPSTTETSQ NTAKDKCKKA ASSSKAPKNG GKAKDSAKTT EETSKPKDD*

speed

0.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000508608

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1361G>C
cDNA.1445G>C
g.220810G>C

AA changes

C454S Score: 112 explain score(s)

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

454

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

454

mutated

not conserved

454

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

370

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

470

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2265 / 2265

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

755 / 755

position of stopcodon in wt / mu cDNA

2349 / 2349

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

85 / 85

chromosome

strand

last intron/exon boundary

2373

theoretical NMD boundary in CDS

2238

length of CDS

2265

coding sequence (CDS) position

1361

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

1445

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MAFASWWYKT HVSEKTSESP SKPGEKKGSD EKKAASLGSS QSSRTYAGGT ASATKVSASS
GATSKSSSMN PTETKAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVCRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSQSD KDLDDALDKL SDSLGQRQPD PDENKPMEDK VKEKAKAEHR DKLGERDDTI
PPEYRHLLDD NGQDKPVKPP TKKSEDSKKP ADDQDPIDAL SGDLDSCPST TETSQNTAKD
KCKKAASSSK APKNGGKAKD SAKTTEETSK PKDD*

mutated AA sequence

MAFASWWYKT HVSEKTSESP SKPGEKKGSD EKKAASLGSS QSSRTYAGGT ASATKVSASS
GATSKSSSMN PTETKAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVSRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSQSD KDLDDALDKL SDSLGQRQPD PDENKPMEDK VKEKAKAEHR DKLGERDDTI
PPEYRHLLDD NGQDKPVKPP TKKSEDSKKP ADDQDPIDAL SGDLDSCPST TETSQNTAKD
KCKKAASSSK APKNGGKAKD SAKTTEETSK PKDD*

speed

0.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000504465

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1007G>C
cDNA.1156G>C
g.220810G>C

AA changes

C336S Score: 112 explain score(s)

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

336

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

336

mutated

not conserved

336

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

375

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

632

protein features

start (aa)	end (aa)	feature	details
304	356	REPEAT	Inhibitory domain 2.	lost
364	364	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
366	366	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
373	373	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1911 / 1911

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

637 / 637

position of stopcodon in wt / mu cDNA

2060 / 2060

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

150 / 150

chromosome

strand

last intron/exon boundary

2084

theoretical NMD boundary in CDS

1884

length of CDS

1911

coding sequence (CDS) position

1007

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

1156

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MNPTETKAVK TEPEKKSQST KLSVVHEKKS QEGKPKEHTE PKSLPKQASD TGSNDAHNKK
AVSRSAEQQP SEKSTEPKSG MDAALDDLID TLGGPEETEE ENTTYTGPEV SDPMSSTYIE
ELGKREVTIP PKYRELLAKK EGITGPPADS SKPIGPDDAI DALSSDFTCG SPTAAGKKTE
KEESTEVLKA QSAGTVRSAA PPQEKKRKVE KDTMSDQALE ALSASLGTRQ AEPELDLRSI
KEVDEAKAKE EKLEKCGEDD ETIPSEYRLK PATDKDGKPL LPEPEEKPKP RSESELIDEL
SEDFDRSECK EKPSKPTEKT EESKAAAPAP VSEAVCRTSM CSIQSAPPEP ATLKGTVPDD
AVEALADSLG KKEADPEDGK PVMDKVKEKA KEEDREKLGE KEETIPPDYR LEEVKDKDGK
PLLPKESKEQ LPPMSEDFLL DALSEDFSGP QNASSLKFED AKLAAAISEV VSQTPASTTQ
AGAPPRDTSQ SDKDLDDALD KLSDSLGQRQ PDPDENKPME DKVKEKAKAE HRDKLGERDD
TIPPEYRHLL DDNGQDKPVK PPTKKSEDSK KPADDQDPID ALSGDLDSCP STTETSQNTA
KDKCKKAASS SKAPKNGGKA KDSAKTTEET SKPKDD*

mutated AA sequence

MNPTETKAVK TEPEKKSQST KLSVVHEKKS QEGKPKEHTE PKSLPKQASD TGSNDAHNKK
AVSRSAEQQP SEKSTEPKSG MDAALDDLID TLGGPEETEE ENTTYTGPEV SDPMSSTYIE
ELGKREVTIP PKYRELLAKK EGITGPPADS SKPIGPDDAI DALSSDFTCG SPTAAGKKTE
KEESTEVLKA QSAGTVRSAA PPQEKKRKVE KDTMSDQALE ALSASLGTRQ AEPELDLRSI
KEVDEAKAKE EKLEKCGEDD ETIPSEYRLK PATDKDGKPL LPEPEEKPKP RSESELIDEL
SEDFDRSECK EKPSKPTEKT EESKAAAPAP VSEAVSRTSM CSIQSAPPEP ATLKGTVPDD
AVEALADSLG KKEADPEDGK PVMDKVKEKA KEEDREKLGE KEETIPPDYR LEEVKDKDGK
PLLPKESKEQ LPPMSEDFLL DALSEDFSGP QNASSLKFED AKLAAAISEV VSQTPASTTQ
AGAPPRDTSQ SDKDLDDALD KLSDSLGQRQ PDPDENKPME DKVKEKAKAE HRDKLGERDD
TIPPEYRHLL DDNGQDKPVK PPTKKSEDSK KPADDQDPID ALSGDLDSCP STTETSQNTA
KDKCKKAASS SKAPKNGGKA KDSAKTTEET SKPKDD*

speed

0.92 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000395813

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1472G>C
cDNA.1658G>C
g.220810G>C

AA changes

C491S Score: 112 explain score(s)

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

491

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

491

mutated

not conserved

491

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

373

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2376 / 2376

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

792 / 792

position of stopcodon in wt / mu cDNA

2562 / 2562

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

187 / 187

chromosome

strand

last intron/exon boundary

2586

theoretical NMD boundary in CDS

2349

length of CDS

2376

coding sequence (CDS) position

1472

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

1658

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

mutated AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKLSVV HEKKSQEGKP KEHTEPKSLP KQASDTGSND AHNKKAVSRS AEQQPSEKST
EPKTKPQDMI SAGGESVAGI TAISGKPGDK KKEKKSLTPA VPVESKPDKP SGKSGMDAAL
DDLIDTLGGP EETEEENTTY TGPEVSDPMS STYIEELGKR EVTIPPKYRE LLAKKEGITG
PPADSSKPIG PDDAIDALSS DFTCGSPTAA GKKTEKEEST EVLKAQSAGT VRSAAPPQEK
KRKVEKDTMS DQALEALSAS LGTRQAEPEL DLRSIKEVDE AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV SRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000359176

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1415G>C
cDNA.1601G>C
g.220810G>C

AA changes

C472S Score: 112 explain score(s)

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

472

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

472

mutated

not conserved

472

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

375

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2319 / 2319

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

773 / 773

position of stopcodon in wt / mu cDNA

2505 / 2505

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

187 / 187

chromosome

strand

last intron/exon boundary

2529

theoretical NMD boundary in CDS

2292

length of CDS

2319

coding sequence (CDS) position

1415

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

1601

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKPKSL PKQASDTGSN DAHNKKAVSR SAEQQPSEKS TEPKTKPQDM ISAGGESVAG
ITAISGKPGD KKKEKKSLTP AVPVESKPDK PSGKSGMDAA LDDLIDTLGG PEETEEENTT
YTGPEVSDPM SSTYIEELGK REVTIPPKYR ELLAKKEGIT GPPADSSKPI GPDDAIDALS
SDFTCGSPTA AGKKTEKEES TEVLKAQSAG TVRSAAPPQE KKRKVEKDTM SDQALEALSA
SLGTRQAEPE LDLRSIKEVD EAKAKEEKLE KCGEDDETIP SEYRLKPATD KDGKPLLPEP
EEKPKPRSES ELIDELSEDF DRSECKEKPS KPTEKTEESK AAAPAPVSEA VCRTSMCSIQ
SAPPEPATLK GTVPDDAVEA LADSLGKKEA DPEDGKPVMD KVKEKAKEED REKLGEKEET
IPPDYRLEEV KDKDGKPLLP KESKEQLPPM SEDFLLDALS EDFSGPQNAS SLKFEDAKLA
AAISEVVSQT PASTTQAGAP PRDTSQSDKD LDDALDKLSD SLGQRQPDPD ENKPMEDKVK
EKAKAEHRDK LGERDDTIPP EYRHLLDDNG QDKPVKPPTK KSEDSKKPAD DQDPIDALSG
DLDSCPSTTE TSQNTAKDKC KKAASSSKAP KNGGKAKDSA KTTEETSKPK DD*

mutated AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKPKSL PKQASDTGSN DAHNKKAVSR SAEQQPSEKS TEPKTKPQDM ISAGGESVAG
ITAISGKPGD KKKEKKSLTP AVPVESKPDK PSGKSGMDAA LDDLIDTLGG PEETEEENTT
YTGPEVSDPM SSTYIEELGK REVTIPPKYR ELLAKKEGIT GPPADSSKPI GPDDAIDALS
SDFTCGSPTA AGKKTEKEES TEVLKAQSAG TVRSAAPPQE KKRKVEKDTM SDQALEALSA
SLGTRQAEPE LDLRSIKEVD EAKAKEEKLE KCGEDDETIP SEYRLKPATD KDGKPLLPEP
EEKPKPRSES ELIDELSEDF DRSECKEKPS KPTEKTEESK AAAPAPVSEA VSRTSMCSIQ
SAPPEPATLK GTVPDDAVEA LADSLGKKEA DPEDGKPVMD KVKEKAKEED REKLGEKEET
IPPDYRLEEV KDKDGKPLLP KESKEQLPPM SEDFLLDALS EDFSGPQNAS SLKFEDAKLA
AAISEVVSQT PASTTQAGAP PRDTSQSDKD LDDALDKLSD SLGQRQPDPD ENKPMEDKVK
EKAKAEHRDK LGERDDTIPP EYRHLLDDNG QDKPVKPPTK KSEDSKKPAD DQDPIDALSG
DLDSCPSTTE TSQNTAKDKC KKAASSSKAP KNGGKAKDSA KTTEETSKPK DD*

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000325674

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1367G>C
cDNA.1553G>C
g.220810G>C

AA changes

C456S Score: 112 explain score(s)

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

456

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

456

mutated

not conserved

456

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

370

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

470

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
446	499	REPEAT	Inhibitory domain 3.	lost
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

position of stopcodon in wt / mu cDNA

2457 / 2457

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

187 / 187

chromosome

strand

last intron/exon boundary

2481

theoretical NMD boundary in CDS

2244

length of CDS

2271

coding sequence (CDS) position

1367

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

1553

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKLSVVHE KKSQEGKPKE
HTEPKSLPKQ ASDTGSNDAH NKKAVSRSAE QQPSEKSTEP KTKPQDMISA GGESVAGITA
ISGKPGDKKK EKKSLTPAVP VESKPDKPSG KSGMDAALDD LIDTLGGPEE TEEENTTYTG
PEVSDPMSST YIEELGKREV TIPPKYRELL AKPIGPDDAI DALSSDFTCG SPTAAGKKTE
KEESTEVLKA QSAGTVRSAA PPQEKKRKVE KDTMSDQALE ALSASLGTRQ AEPELDLRSI
KEVDEAKAKE EKLEKCGEDD ETIPSEYRLK PATDKDGKPL LPEPEEKPKP RSESELIDEL
SEDFDRSECK EKPSKPTEKT EESKAAAPAP VSEAVCRTSM CSIQSAPPEP ATLKGTVPDD
AVEALADSLG KKEADPEDGK PVMDKVKEKA KEEDREKLGE KEETIPPDYR LEEVKDKDGK
PLLPKESKEQ LPPMSEDFLL DALSEDFSGP QNASSLKFED AKLAAAISEV VSQTPASTTQ
AGAPPRDTSQ SDKDLDDALD KLSDSLGQRQ PDPDENKPME DKVKEKAKAE HRDKLGERDD
TIPPEYRHLL DDNGQDKPVK PPTKKSEDSK KPADDQDPID ALSGDLDSCP STTETSQNTA
KDKCKKAASS SKAPKNGGKA KDSAKTTEET SKPKDD*

mutated AA sequence

MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKLSVVHE KKSQEGKPKE
HTEPKSLPKQ ASDTGSNDAH NKKAVSRSAE QQPSEKSTEP KTKPQDMISA GGESVAGITA
ISGKPGDKKK EKKSLTPAVP VESKPDKPSG KSGMDAALDD LIDTLGGPEE TEEENTTYTG
PEVSDPMSST YIEELGKREV TIPPKYRELL AKPIGPDDAI DALSSDFTCG SPTAAGKKTE
KEESTEVLKA QSAGTVRSAA PPQEKKRKVE KDTMSDQALE ALSASLGTRQ AEPELDLRSI
KEVDEAKAKE EKLEKCGEDD ETIPSEYRLK PATDKDGKPL LPEPEEKPKP RSESELIDEL
SEDFDRSECK EKPSKPTEKT EESKAAAPAP VSEAVSRTSM CSIQSAPPEP ATLKGTVPDD
AVEALADSLG KKEADPEDGK PVMDKVKEKA KEEDREKLGE KEETIPPDYR LEEVKDKDGK
PLLPKESKEQ LPPMSEDFLL DALSEDFSGP QNASSLKFED AKLAAAISEV VSQTPASTTQ
AGAPPRDTSQ SDKDLDDALD KLSDSLGQRQ PDPDENKPME DKVKEKAKAE HRDKLGERDD
TIPPEYRHLL DDNGQDKPVK PPTKKSEDSK KPADDQDPID ALSGDLDSCP STTETSQNTA
KDKCKKAASS SKAPKNGGKA KDSAKTTEET SKPKDD*

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999975 (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)

chr5:96086334G>CN/A show variant in all transcripts IGV

HGNC symbol

CAST

Ensembl transcript ID

ENST00000509903

Genbank transcript ID

N/A

UniProt peptide

P20810

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1118G>C
cDNA.1267G>C
g.220810G>C

AA changes

C373S Score: 112 explain score(s)

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

373

frameshift

known variant

Reference ID: rs754615

database	homozygous (C/C)	heterozygous	allele carriers
1000G	249	973	1222
ExAC	7265	18237	25502

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.903	0.006
	1.116	0.006
(flanking)	0.014	0.001

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	220802	wt: 0.48 / mu: 0.63	wt: TCGGAGGCTGTGTGT mu: TCGGAGGCTGTGTCT	GGAG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

373

mutated

not conserved

373

Ptroglodytes

not conserved

ENSPTRG00000017093

386

Mmulatta

not conserved

ENSMMUG00000002062

408

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021585

454

Ggallus

not conserved

ENSGALG00000014682

370

Trubripes

not conserved

ENSTRUG00000014934

266

Drerio

not conserved

ENSDARG00000058693

469

PEKTKDIPKT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000013262

628

protein features

start (aa)	end (aa)	feature	details
373	373	MOD_RES	Phosphoserine.	lost
446	499	REPEAT	Inhibitory domain 3.	might get lost (downstream of altered splice site)
467	467	CONFLICT	R -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
486	488	CONFLICT	VKD -> GKE (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
543	543	CONFLICT	V -> L (in Ref. 10; AAC50136).	might get lost (downstream of altered splice site)
562	562	CONFLICT	Missing (in Ref. 13; AAB60371).	might get lost (downstream of altered splice site)
583	636	REPEAT	Inhibitory domain 4.	might get lost (downstream of altered splice site)
629	629	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
651	651	CONFLICT	I -> V (in Ref. 14; AAD09102).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2022 / 2022

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

674 / 674

position of stopcodon in wt / mu cDNA

2171 / 2171

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

150 / 150

chromosome

strand

last intron/exon boundary

2136

theoretical NMD boundary in CDS

1936

length of CDS

2022

coding sequence (CDS) position

1118

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

1267

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

220810

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

96086334

original gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered gDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

original cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA

altered cDNA sequence snippet

TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA

wildtype AA sequence

MNPTETKAVK TEPEKKSQST KLSVVHEKKS QEGKPKEHTE PKSLPKQASD TGSNDAHNKK
AVSRSAEQQP SEKSTEPKTK PQDMISAGGE SVAGITAISG KPGDKKKEKK SLTPAVPVES
KPDKPSGKSG MDAALDDLID TLGGPEETEE ENTTYTGPEV SDPMSSTYIE ELGKREVTIP
PKYRELLAKP IGPDDAIDAL SSDFTCGSPT AAGKKTEKEE STEVLKAQSA GTVRSAAPPQ
EKKRKVEKDT MSDQALEALS ASLGTRQAEP ELDLRSIKEV DEAKAKEEKL EKCGEDDETI
PSEYRLKPAT DKDGKPLLPE PEEKPKPRSE SELIDELSED FDRSECKEKP SKPTEKTEES
KAAAPAPVSE AVCRTSMCSI QSAPPEPATL KGTVPDDAVE ALADSLGKKE ADPEDGKPVM
DKVKEKAKEE DREKLGEKEE TIPPDYRLEE VKDKDGKPLL PKESKEQLPP MSEDFLLDAL
SEDFSGPQNA SSLKFEDAKL AAAISEVVSQ TPASTTQAGA PPRDTSQSDK DLDDALDKLS
DSLGQRQPDP DENKPMEDKV KEKAKAEHRD KLGERDDTIP PEYRHLLDDN GQDKPVKPPT
KKSEDSKKPA DDQDPIDALS GDLDSCPSTT ETSQNTAKDK CKKAASSSKA PKNGGKAKDS
AKTTEETSKP KDD*

mutated AA sequence

MNPTETKAVK TEPEKKSQST KLSVVHEKKS QEGKPKEHTE PKSLPKQASD TGSNDAHNKK
AVSRSAEQQP SEKSTEPKTK PQDMISAGGE SVAGITAISG KPGDKKKEKK SLTPAVPVES
KPDKPSGKSG MDAALDDLID TLGGPEETEE ENTTYTGPEV SDPMSSTYIE ELGKREVTIP
PKYRELLAKP IGPDDAIDAL SSDFTCGSPT AAGKKTEKEE STEVLKAQSA GTVRSAAPPQ
EKKRKVEKDT MSDQALEALS ASLGTRQAEP ELDLRSIKEV DEAKAKEEKL EKCGEDDETI
PSEYRLKPAT DKDGKPLLPE PEEKPKPRSE SELIDELSED FDRSECKEKP SKPTEKTEES
KAAAPAPVSE AVSRTSMCSI QSAPPEPATL KGTVPDDAVE ALADSLGKKE ADPEDGKPVM
DKVKEKAKEE DREKLGEKEE TIPPDYRLEE VKDKDGKPLL PKESKEQLPP MSEDFLLDAL
SEDFSGPQNA SSLKFEDAKL AAAISEVVSQ TPASTTQAGA PPRDTSQSDK DLDDALDKLS
DSLGQRQPDP DENKPMEDKV KEKAKAEHRD KLGERDDTIP PEYRHLLDDN GQDKPVKPPT
KKSEDSKKPA DDQDPIDALS GDLDSCPSTT ETSQNTAKDK CKKAASSSKA PKNGGKAKDS
AKTTEETSKP KDD*

speed

0.69 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

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

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

mutation t@sting

Prediction

polymorphism

Problems