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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000253332
Querying Taster for transcript #2: ENST00000354675
Querying Taster for transcript #3: ENST00000402676
Querying Taster for transcript #4: ENST00000359755
MT speed 0 s - this script 5.254942 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AKAP12	polymorphism_automatic	5.34492219039784e-07	simple_aae				K216Q	single base exchange	rs3734799		show file
AKAP12	polymorphism_automatic	5.34492219039784e-07	simple_aae				K118Q	single base exchange	rs3734799		show file
AKAP12	polymorphism_automatic	5.34492219039784e-07	simple_aae				K216Q	single base exchange	rs3734799		show file
AKAP12	polymorphism_automatic	5.34492219039784e-07	simple_aae				K111Q	single base exchange	rs3734799		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999465507781 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:151670172A>CN/A show variant in all transcripts IGV

HGNC symbol

AKAP12

Ensembl transcript ID

ENST00000253332

Genbank transcript ID

N/A

UniProt peptide

Q02952

alteration type

single base exchange

alteration region

CDS

DNA changes

c.646A>C
cDNA.835A>C
g.109039A>C

AA changes

K216Q Score: 53 explain score(s)

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

216

frameshift

known variant

Reference ID: rs3734799

database	homozygous (C/C)	heterozygous	allele carriers
1000G	795	1134	1929
ExAC	28275	-23783	4492

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.233	0.727
	1.009	0.725
(flanking)	0.32	0.708

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

splice sites

no abrogation of potential splice sites

distance from splice site

327

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

216

mutated

all conserved

216

Ptroglodytes

all conserved

ENSPTRG00000018711

215

Mmulatta

all conserved

ENSMMUG00000023265

216

Fcatus

all conserved

ENSFCAG00000010203

202

GAPD

Mmusculus

all conserved

ENSMUSG00000038587

198

AEAS

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000055678

113

Dmelanogaster

all identical

FBgn0261836

6008

Celegans

not conserved

W06A7.3

241

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5349 / 5349

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

1783 / 1783

position of stopcodon in wt / mu cDNA

5538 / 5538

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

190 / 190

chromosome

strand

last intron/exon boundary

5551

theoretical NMD boundary in CDS

5311

length of CDS

5349

coding sequence (CDS) position

646

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

835

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

109039

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

151670172

original gDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered gDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

original cDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered cDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

wildtype AA sequence

MGAGSSTEQR SPEQPPEGSS TPAEPEPSGG GPSAEAAPDT TADPAIAASD PATKLLQKNG
QLSTINGVAE QDELSLQEGD LNGQKGALNG QGALNSQEEE EVIVTEVGQR DSEDVSKRDS
DKEMATKSAV VHDITDDGQE ETPEIIEQIP SSESNLEELT QPTESQANDI GFKKVFKFVG
FKFTVKKDKT EKPDTVQLLT VKKDEGEGAA GAGDHKDPSL GAGEAASKES EPKQSTEKPE
ETLKREQSHA EISPPAESGQ AVEECKEEGE EKQEKEPSKS AESPTSPVTS ETGSTFKKFF
TQGWAGWRKK TSFRKPKEDE VEASEKKKEQ EPEKVDTEED GKAEVASEKL TASEQAHPQE
PAESAHEPRL SAEYEKVELP SEEQVSGSQG PSEEKPAPLA TEVFDEKIEV HQEEVVAEVH
VSTVEERTEE QKTEVEETAG SVPAEELVEM DAEPQEAEPA KELVKLKETC VSGEDPTQGA
DLSPDEKVLS KPPEGVVSEV EMLSSQERMK VQGSPLKKLF TSTGLKKLSG KKQKGKRGGG
DEESGEHTQV PADSPDSQEE QKGESSASSP EEPEEITCLE KGLAEVQQDG EAEEGATSDG
EKKREGVTPW ASFKKMVTPK KRVRRPSESD KEDELDKVKS ATLSSTESTA SEMQEEMKGS
VEEPKPEEPK RKVDTSVSWE ALICVGSSKK RARRGSSSDE EGGPKAMGGD HQKADEAGKD
KETGTDGILA GSQEHDPGQG SSSPEQAGSP TEGEGVSTWE SFKRLVTPRK KSKSKLEEKS
EDSIAGSGVE HSTPDTEPGK EESWVSIKKF IPGRRKKRPD GKQEQAPVED AGPTGANEDD
SDVPAVVPLS EYDAVEREKM EAQQAQKSAE QPEQKAATEV SKELSESQVH MMAAAVADGT
RAATIIEERS PSWISASVTE PLEQVEAEAA LLTEEVLERE VIAEEEPPTV TEPLPENREA
RGDTVVSEAE LTPEAVTAAE TAGPLGAEEG TEASAAEETT EMVSAVSQLT DSPDTTEEAT
PVQEVEGGVP DIEEQERRTQ EVLQAVAEKV KEESQLPGTG GPEDVLQPVQ RAEAERPEEQ
AEASGLKKET DVVLKVDAQE AKTEPFTQGK VVGQTTPESF EKAPQVTESI ESSELVTTCQ
AETLAGVKSQ EMVMEQAIPP DSVETPTDSE TDGSTPVADF DAPGTTQKDE IVEIHEENEV
ASGTQSGGTE AEAVPAQKER PPAPSSFVFQ EETKEQSKME DTLEHTDKEV SVETVSILSK
TEGTQEADQY ADEKTKDVPF FEGLEGSIDT GITVSREKVT EVALKGEGTE EAECKKDDAL
ELQSHAKSPP SPVEREMVVQ VEREKTEAEP THVNEEKLEH ETAVTVSEEV SKQLLQTVNV
PIIDGAKEVS SLEGSPPPCL GQEEAVCTKI QVQSSEASFT LTAAAEEEKV LGETANILET
GETLEPAGAH LVLEEKSSEK NEDFAAHPGE DAVPTGPDCQ AKSTPVIVSA TTKKGLSSDL
EGEKTTSLKW KSDEVDEQVA CQEVKVSVAI EDLEPENGIL ELETKSSKLV QNIIQTAVDQ
FVRTEETATE MLTSELQTQA HVIKADSQDA GQETEKEGEE PQASAQDETP ITSAKEESES
TAVGQAHSDI SKDMSEASEK TMTVEVEGST VNDQQLEEVV LPSEEEGGGA GTKSVPEDDG
HALLAERIEK SLVEPKEDEK GDDVDDPENQ NSALADTDAS GGLTKESPDT NGPKQKEKED
AQEVELQEGK VHSESDKAIT PQAQEELQKQ ERESAKSELT ES*

mutated AA sequence

MGAGSSTEQR SPEQPPEGSS TPAEPEPSGG GPSAEAAPDT TADPAIAASD PATKLLQKNG
QLSTINGVAE QDELSLQEGD LNGQKGALNG QGALNSQEEE EVIVTEVGQR DSEDVSKRDS
DKEMATKSAV VHDITDDGQE ETPEIIEQIP SSESNLEELT QPTESQANDI GFKKVFKFVG
FKFTVKKDKT EKPDTVQLLT VKKDEGEGAA GAGDHQDPSL GAGEAASKES EPKQSTEKPE
ETLKREQSHA EISPPAESGQ AVEECKEEGE EKQEKEPSKS AESPTSPVTS ETGSTFKKFF
TQGWAGWRKK TSFRKPKEDE VEASEKKKEQ EPEKVDTEED GKAEVASEKL TASEQAHPQE
PAESAHEPRL SAEYEKVELP SEEQVSGSQG PSEEKPAPLA TEVFDEKIEV HQEEVVAEVH
VSTVEERTEE QKTEVEETAG SVPAEELVEM DAEPQEAEPA KELVKLKETC VSGEDPTQGA
DLSPDEKVLS KPPEGVVSEV EMLSSQERMK VQGSPLKKLF TSTGLKKLSG KKQKGKRGGG
DEESGEHTQV PADSPDSQEE QKGESSASSP EEPEEITCLE KGLAEVQQDG EAEEGATSDG
EKKREGVTPW ASFKKMVTPK KRVRRPSESD KEDELDKVKS ATLSSTESTA SEMQEEMKGS
VEEPKPEEPK RKVDTSVSWE ALICVGSSKK RARRGSSSDE EGGPKAMGGD HQKADEAGKD
KETGTDGILA GSQEHDPGQG SSSPEQAGSP TEGEGVSTWE SFKRLVTPRK KSKSKLEEKS
EDSIAGSGVE HSTPDTEPGK EESWVSIKKF IPGRRKKRPD GKQEQAPVED AGPTGANEDD
SDVPAVVPLS EYDAVEREKM EAQQAQKSAE QPEQKAATEV SKELSESQVH MMAAAVADGT
RAATIIEERS PSWISASVTE PLEQVEAEAA LLTEEVLERE VIAEEEPPTV TEPLPENREA
RGDTVVSEAE LTPEAVTAAE TAGPLGAEEG TEASAAEETT EMVSAVSQLT DSPDTTEEAT
PVQEVEGGVP DIEEQERRTQ EVLQAVAEKV KEESQLPGTG GPEDVLQPVQ RAEAERPEEQ
AEASGLKKET DVVLKVDAQE AKTEPFTQGK VVGQTTPESF EKAPQVTESI ESSELVTTCQ
AETLAGVKSQ EMVMEQAIPP DSVETPTDSE TDGSTPVADF DAPGTTQKDE IVEIHEENEV
ASGTQSGGTE AEAVPAQKER PPAPSSFVFQ EETKEQSKME DTLEHTDKEV SVETVSILSK
TEGTQEADQY ADEKTKDVPF FEGLEGSIDT GITVSREKVT EVALKGEGTE EAECKKDDAL
ELQSHAKSPP SPVEREMVVQ VEREKTEAEP THVNEEKLEH ETAVTVSEEV SKQLLQTVNV
PIIDGAKEVS SLEGSPPPCL GQEEAVCTKI QVQSSEASFT LTAAAEEEKV LGETANILET
GETLEPAGAH LVLEEKSSEK NEDFAAHPGE DAVPTGPDCQ AKSTPVIVSA TTKKGLSSDL
EGEKTTSLKW KSDEVDEQVA CQEVKVSVAI EDLEPENGIL ELETKSSKLV QNIIQTAVDQ
FVRTEETATE MLTSELQTQA HVIKADSQDA GQETEKEGEE PQASAQDETP ITSAKEESES
TAVGQAHSDI SKDMSEASEK TMTVEVEGST VNDQQLEEVV LPSEEEGGGA GTKSVPEDDG
HALLAERIEK SLVEPKEDEK GDDVDDPENQ NSALADTDAS GGLTKESPDT NGPKQKEKED
AQEVELQEGK VHSESDKAIT PQAQEELQKQ ERESAKSELT ES*

speed

1.18 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: 0.999999465507781 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:151670172A>CN/A show variant in all transcripts IGV

HGNC symbol

AKAP12

Ensembl transcript ID

ENST00000354675

Genbank transcript ID

NM_144497

UniProt peptide

Q02952

alteration type

single base exchange

alteration region

CDS

DNA changes

c.352A>C
cDNA.525A>C
g.109039A>C

AA changes

K118Q Score: 53 explain score(s)

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

118

frameshift

known variant

Reference ID: rs3734799

database	homozygous (C/C)	heterozygous	allele carriers
1000G	795	1134	1929
ExAC	28275	-23783	4492

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.233	0.727
	1.009	0.725
(flanking)	0.32	0.708

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

splice sites

no abrogation of potential splice sites

distance from splice site

327

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

118

mutated

all conserved

118

Ptroglodytes

all conserved

ENSPTRG00000018711

215

Mmulatta

all conserved

ENSMMUG00000023265

216

Fcatus

all conserved

ENSFCAG00000010203

202

GAPD

Mmusculus

all conserved

ENSMUSG00000038587

198

AEAS

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000055678

113

Dmelanogaster

all identical

FBgn0261836

6008

Celegans

not conserved

W06A7.3

240

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5055 / 5055

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

1685 / 1685

position of stopcodon in wt / mu cDNA

5228 / 5228

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

174 / 174

chromosome

strand

last intron/exon boundary

5241

theoretical NMD boundary in CDS

5017

length of CDS

5055

coding sequence (CDS) position

352

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

525

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

109039

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

151670172

original gDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered gDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

original cDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered cDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

wildtype AA sequence

MLGTITITVG QRDSEDVSKR DSDKEMATKS AVVHDITDDG QEETPEIIEQ IPSSESNLEE
LTQPTESQAN DIGFKKVFKF VGFKFTVKKD KTEKPDTVQL LTVKKDEGEG AAGAGDHKDP
SLGAGEAASK ESEPKQSTEK PEETLKREQS HAEISPPAES GQAVEECKEE GEEKQEKEPS
KSAESPTSPV TSETGSTFKK FFTQGWAGWR KKTSFRKPKE DEVEASEKKK EQEPEKVDTE
EDGKAEVASE KLTASEQAHP QEPAESAHEP RLSAEYEKVE LPSEEQVSGS QGPSEEKPAP
LATEVFDEKI EVHQEEVVAE VHVSTVEERT EEQKTEVEET AGSVPAEELV EMDAEPQEAE
PAKELVKLKE TCVSGEDPTQ GADLSPDEKV LSKPPEGVVS EVEMLSSQER MKVQGSPLKK
LFTSTGLKKL SGKKQKGKRG GGDEESGEHT QVPADSPDSQ EEQKGESSAS SPEEPEEITC
LEKGLAEVQQ DGEAEEGATS DGEKKREGVT PWASFKKMVT PKKRVRRPSE SDKEDELDKV
KSATLSSTES TASEMQEEMK GSVEEPKPEE PKRKVDTSVS WEALICVGSS KKRARRGSSS
DEEGGPKAMG GDHQKADEAG KDKETGTDGI LAGSQEHDPG QGSSSPEQAG SPTEGEGVST
WESFKRLVTP RKKSKSKLEE KSEDSIAGSG VEHSTPDTEP GKEESWVSIK KFIPGRRKKR
PDGKQEQAPV EDAGPTGANE DDSDVPAVVP LSEYDAVERE KMEAQQAQKS AEQPEQKAAT
EVSKELSESQ VHMMAAAVAD GTRAATIIEE RSPSWISASV TEPLEQVEAE AALLTEEVLE
REVIAEEEPP TVTEPLPENR EARGDTVVSE AELTPEAVTA AETAGPLGAE EGTEASAAEE
TTEMVSAVSQ LTDSPDTTEE ATPVQEVEGG VPDIEEQERR TQEVLQAVAE KVKEESQLPG
TGGPEDVLQP VQRAEAERPE EQAEASGLKK ETDVVLKVDA QEAKTEPFTQ GKVVGQTTPE
SFEKAPQVTE SIESSELVTT CQAETLAGVK SQEMVMEQAI PPDSVETPTD SETDGSTPVA
DFDAPGTTQK DEIVEIHEEN EVASGTQSGG TEAEAVPAQK ERPPAPSSFV FQEETKEQSK
MEDTLEHTDK EVSVETVSIL SKTEGTQEAD QYADEKTKDV PFFEGLEGSI DTGITVSREK
VTEVALKGEG TEEAECKKDD ALELQSHAKS PPSPVEREMV VQVEREKTEA EPTHVNEEKL
EHETAVTVSE EVSKQLLQTV NVPIIDGAKE VSSLEGSPPP CLGQEEAVCT KIQVQSSEAS
FTLTAAAEEE KVLGETANIL ETGETLEPAG AHLVLEEKSS EKNEDFAAHP GEDAVPTGPD
CQAKSTPVIV SATTKKGLSS DLEGEKTTSL KWKSDEVDEQ VACQEVKVSV AIEDLEPENG
ILELETKSSK LVQNIIQTAV DQFVRTEETA TEMLTSELQT QAHVIKADSQ DAGQETEKEG
EEPQASAQDE TPITSAKEES ESTAVGQAHS DISKDMSEAS EKTMTVEVEG STVNDQQLEE
VVLPSEEEGG GAGTKSVPED DGHALLAERI EKSLVEPKED EKGDDVDDPE NQNSALADTD
ASGGLTKESP DTNGPKQKEK EDAQEVELQE GKVHSESDKA ITPQAQEELQ KQERESAKSE
LTES*

mutated AA sequence

MLGTITITVG QRDSEDVSKR DSDKEMATKS AVVHDITDDG QEETPEIIEQ IPSSESNLEE
LTQPTESQAN DIGFKKVFKF VGFKFTVKKD KTEKPDTVQL LTVKKDEGEG AAGAGDHQDP
SLGAGEAASK ESEPKQSTEK PEETLKREQS HAEISPPAES GQAVEECKEE GEEKQEKEPS
KSAESPTSPV TSETGSTFKK FFTQGWAGWR KKTSFRKPKE DEVEASEKKK EQEPEKVDTE
EDGKAEVASE KLTASEQAHP QEPAESAHEP RLSAEYEKVE LPSEEQVSGS QGPSEEKPAP
LATEVFDEKI EVHQEEVVAE VHVSTVEERT EEQKTEVEET AGSVPAEELV EMDAEPQEAE
PAKELVKLKE TCVSGEDPTQ GADLSPDEKV LSKPPEGVVS EVEMLSSQER MKVQGSPLKK
LFTSTGLKKL SGKKQKGKRG GGDEESGEHT QVPADSPDSQ EEQKGESSAS SPEEPEEITC
LEKGLAEVQQ DGEAEEGATS DGEKKREGVT PWASFKKMVT PKKRVRRPSE SDKEDELDKV
KSATLSSTES TASEMQEEMK GSVEEPKPEE PKRKVDTSVS WEALICVGSS KKRARRGSSS
DEEGGPKAMG GDHQKADEAG KDKETGTDGI LAGSQEHDPG QGSSSPEQAG SPTEGEGVST
WESFKRLVTP RKKSKSKLEE KSEDSIAGSG VEHSTPDTEP GKEESWVSIK KFIPGRRKKR
PDGKQEQAPV EDAGPTGANE DDSDVPAVVP LSEYDAVERE KMEAQQAQKS AEQPEQKAAT
EVSKELSESQ VHMMAAAVAD GTRAATIIEE RSPSWISASV TEPLEQVEAE AALLTEEVLE
REVIAEEEPP TVTEPLPENR EARGDTVVSE AELTPEAVTA AETAGPLGAE EGTEASAAEE
TTEMVSAVSQ LTDSPDTTEE ATPVQEVEGG VPDIEEQERR TQEVLQAVAE KVKEESQLPG
TGGPEDVLQP VQRAEAERPE EQAEASGLKK ETDVVLKVDA QEAKTEPFTQ GKVVGQTTPE
SFEKAPQVTE SIESSELVTT CQAETLAGVK SQEMVMEQAI PPDSVETPTD SETDGSTPVA
DFDAPGTTQK DEIVEIHEEN EVASGTQSGG TEAEAVPAQK ERPPAPSSFV FQEETKEQSK
MEDTLEHTDK EVSVETVSIL SKTEGTQEAD QYADEKTKDV PFFEGLEGSI DTGITVSREK
VTEVALKGEG TEEAECKKDD ALELQSHAKS PPSPVEREMV VQVEREKTEA EPTHVNEEKL
EHETAVTVSE EVSKQLLQTV NVPIIDGAKE VSSLEGSPPP CLGQEEAVCT KIQVQSSEAS
FTLTAAAEEE KVLGETANIL ETGETLEPAG AHLVLEEKSS EKNEDFAAHP GEDAVPTGPD
CQAKSTPVIV SATTKKGLSS DLEGEKTTSL KWKSDEVDEQ VACQEVKVSV AIEDLEPENG
ILELETKSSK LVQNIIQTAV DQFVRTEETA TEMLTSELQT QAHVIKADSQ DAGQETEKEG
EEPQASAQDE TPITSAKEES ESTAVGQAHS DISKDMSEAS EKTMTVEVEG STVNDQQLEE
VVLPSEEEGG GAGTKSVPED DGHALLAERI EKSLVEPKED EKGDDVDDPE NQNSALADTD
ASGGLTKESP DTNGPKQKEK EDAQEVELQE GKVHSESDKA ITPQAQEELQ KQERESAKSE
LTES*

speed

1.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999465507781 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:151670172A>CN/A show variant in all transcripts IGV

HGNC symbol

AKAP12

Ensembl transcript ID

ENST00000402676

Genbank transcript ID

NM_005100

UniProt peptide

Q02952

alteration type

single base exchange

alteration region

CDS

DNA changes

c.646A>C
cDNA.886A>C
g.109039A>C

AA changes

K216Q Score: 53 explain score(s)

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

216

frameshift

known variant

Reference ID: rs3734799

database	homozygous (C/C)	heterozygous	allele carriers
1000G	795	1134	1929
ExAC	28275	-23783	4492

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.233	0.727
	1.009	0.725
(flanking)	0.32	0.708

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

splice sites

no abrogation of potential splice sites

distance from splice site

327

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

216

mutated

all conserved

216

Ptroglodytes

all conserved

ENSPTRG00000018711

215

Mmulatta

all conserved

ENSMMUG00000023265

216

Fcatus

all conserved

ENSFCAG00000010203

202

GAPD

Mmusculus

all conserved

ENSMUSG00000038587

198

AEAS

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000055678

113

Dmelanogaster

all identical

FBgn0261836

6008

Celegans

not conserved

W06A7.3

241

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5349 / 5349

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

1783 / 1783

position of stopcodon in wt / mu cDNA

5589 / 5589

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

241 / 241

chromosome

strand

last intron/exon boundary

5602

theoretical NMD boundary in CDS

5311

length of CDS

5349

coding sequence (CDS) position

646

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

886

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

109039

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

151670172

original gDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered gDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

original cDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered cDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

wildtype AA sequence

mutated AA sequence

MGAGSSTEQR SPEQPPEGSS TPAEPEPSGG GPSAEAAPDT TADPAIAASD PATKLLQKNG
QLSTINGVAE QDELSLQEGD LNGQKGALNG QGALNSQEEE EVIVTEVGQR DSEDVSKRDS
DKEMATKSAV VHDITDDGQE ETPEIIEQIP SSESNLEELT QPTESQANDI GFKKVFKFVG
FKFTVKKDKT EKPDTVQLLT VKKDEGEGAA GAGDHQDPSL GAGEAASKES EPKQSTEKPE
ETLKREQSHA EISPPAESGQ AVEECKEEGE EKQEKEPSKS AESPTSPVTS ETGSTFKKFF
TQGWAGWRKK TSFRKPKEDE VEASEKKKEQ EPEKVDTEED GKAEVASEKL TASEQAHPQE
PAESAHEPRL SAEYEKVELP SEEQVSGSQG PSEEKPAPLA TEVFDEKIEV HQEEVVAEVH
VSTVEERTEE QKTEVEETAG SVPAEELVEM DAEPQEAEPA KELVKLKETC VSGEDPTQGA
DLSPDEKVLS KPPEGVVSEV EMLSSQERMK VQGSPLKKLF TSTGLKKLSG KKQKGKRGGG
DEESGEHTQV PADSPDSQEE QKGESSASSP EEPEEITCLE KGLAEVQQDG EAEEGATSDG
EKKREGVTPW ASFKKMVTPK KRVRRPSESD KEDELDKVKS ATLSSTESTA SEMQEEMKGS
VEEPKPEEPK RKVDTSVSWE ALICVGSSKK RARRGSSSDE EGGPKAMGGD HQKADEAGKD
KETGTDGILA GSQEHDPGQG SSSPEQAGSP TEGEGVSTWE SFKRLVTPRK KSKSKLEEKS
EDSIAGSGVE HSTPDTEPGK EESWVSIKKF IPGRRKKRPD GKQEQAPVED AGPTGANEDD
SDVPAVVPLS EYDAVEREKM EAQQAQKSAE QPEQKAATEV SKELSESQVH MMAAAVADGT
RAATIIEERS PSWISASVTE PLEQVEAEAA LLTEEVLERE VIAEEEPPTV TEPLPENREA
RGDTVVSEAE LTPEAVTAAE TAGPLGAEEG TEASAAEETT EMVSAVSQLT DSPDTTEEAT
PVQEVEGGVP DIEEQERRTQ EVLQAVAEKV KEESQLPGTG GPEDVLQPVQ RAEAERPEEQ
AEASGLKKET DVVLKVDAQE AKTEPFTQGK VVGQTTPESF EKAPQVTESI ESSELVTTCQ
AETLAGVKSQ EMVMEQAIPP DSVETPTDSE TDGSTPVADF DAPGTTQKDE IVEIHEENEV
ASGTQSGGTE AEAVPAQKER PPAPSSFVFQ EETKEQSKME DTLEHTDKEV SVETVSILSK
TEGTQEADQY ADEKTKDVPF FEGLEGSIDT GITVSREKVT EVALKGEGTE EAECKKDDAL
ELQSHAKSPP SPVEREMVVQ VEREKTEAEP THVNEEKLEH ETAVTVSEEV SKQLLQTVNV
PIIDGAKEVS SLEGSPPPCL GQEEAVCTKI QVQSSEASFT LTAAAEEEKV LGETANILET
GETLEPAGAH LVLEEKSSEK NEDFAAHPGE DAVPTGPDCQ AKSTPVIVSA TTKKGLSSDL
EGEKTTSLKW KSDEVDEQVA CQEVKVSVAI EDLEPENGIL ELETKSSKLV QNIIQTAVDQ
FVRTEETATE MLTSELQTQA HVIKADSQDA GQETEKEGEE PQASAQDETP ITSAKEESES
TAVGQAHSDI SKDMSEASEK TMTVEVEGST VNDQQLEEVV LPSEEEGGGA GTKSVPEDDG
HALLAERIEK SLVEPKEDEK GDDVDDPENQ NSALADTDAS GGLTKESPDT NGPKQKEKED
AQEVELQEGK VHSESDKAIT PQAQEELQKQ ERESAKSELT ES*

speed

0.98 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999465507781 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:151670172A>CN/A show variant in all transcripts IGV

HGNC symbol

AKAP12

Ensembl transcript ID

ENST00000359755

Genbank transcript ID

N/A

UniProt peptide

Q02952

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331A>C
cDNA.428A>C
g.109039A>C

AA changes

K111Q Score: 53 explain score(s)

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

111

frameshift

known variant

Reference ID: rs3734799

database	homozygous (C/C)	heterozygous	allele carriers
1000G	795	1134	1929
ExAC	28275	-23783	4492

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.233	0.727
	1.009	0.725
(flanking)	0.32	0.708

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

splice sites

no abrogation of potential splice sites

distance from splice site

327

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

all conserved

111

Ptroglodytes

all conserved

ENSPTRG00000018711

215

Mmulatta

all conserved

ENSMMUG00000023265

216

Fcatus

all conserved

ENSFCAG00000010203

202

GAPD

Mmusculus

all conserved

ENSMUSG00000038587

198

AEAS

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000055678

108

Dmelanogaster

all identical

FBgn0261836

6008

Celegans

not conserved

W06A7.3

240

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5034 / 5034

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

1678 / 1678

position of stopcodon in wt / mu cDNA

5131 / 5131

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

98 / 98

chromosome

strand

last intron/exon boundary

5144

theoretical NMD boundary in CDS

4996

length of CDS

5034

coding sequence (CDS) position

331

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

428

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

109039

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

151670172

original gDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered gDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

original cDNA sequence snippet

CAGCAGGGGCTGGCGACCACAAGGACCCCAGCCTTGGGGCT

altered cDNA sequence snippet

CAGCAGGGGCTGGCGACCACCAGGACCCCAGCCTTGGGGCT

wildtype AA sequence

MVGQRDSEDV SKRDSDKEMA TKSAVVHDIT DDGQEETPEI IEQIPSSESN LEELTQPTES
QANDIGFKKV FKFVGFKFTV KKDKTEKPDT VQLLTVKKDE GEGAAGAGDH KDPSLGAGEA
ASKESEPKQS TEKPEETLKR EQSHAEISPP AESGQAVEEC KEEGEEKQEK EPSKSAESPT
SPVTSETGST FKKFFTQGWA GWRKKTSFRK PKEDEVEASE KKKEQEPEKV DTEEDGKAEV
ASEKLTASEQ AHPQEPAESA HEPRLSAEYE KVELPSEEQV SGSQGPSEEK PAPLATEVFD
EKIEVHQEEV VAEVHVSTVE ERTEEQKTEV EETAGSVPAE ELVEMDAEPQ EAEPAKELVK
LKETCVSGED PTQGADLSPD EKVLSKPPEG VVSEVEMLSS QERMKVQGSP LKKLFTSTGL
KKLSGKKQKG KRGGGDEESG EHTQVPADSP DSQEEQKGES SASSPEEPEE ITCLEKGLAE
VQQDGEAEEG ATSDGEKKRE GVTPWASFKK MVTPKKRVRR PSESDKEDEL DKVKSATLSS
TESTASEMQE EMKGSVEEPK PEEPKRKVDT SVSWEALICV GSSKKRARRG SSSDEEGGPK
AMGGDHQKAD EAGKDKETGT DGILAGSQEH DPGQGSSSPE QAGSPTEGEG VSTWESFKRL
VTPRKKSKSK LEEKSEDSIA GSGVEHSTPD TEPGKEESWV SIKKFIPGRR KKRPDGKQEQ
APVEDAGPTG ANEDDSDVPA VVPLSEYDAV EREKMEAQQA QKSAEQPEQK AATEVSKELS
ESQVHMMAAA VADGTRAATI IEERSPSWIS ASVTEPLEQV EAEAALLTEE VLEREVIAEE
EPPTVTEPLP ENREARGDTV VSEAELTPEA VTAAETAGPL GAEEGTEASA AEETTEMVSA
VSQLTDSPDT TEEATPVQEV EGGVPDIEEQ ERRTQEVLQA VAEKVKEESQ LPGTGGPEDV
LQPVQRAEAE RPEEQAEASG LKKETDVVLK VDAQEAKTEP FTQGKVVGQT TPESFEKAPQ
VTESIESSEL VTTCQAETLA GVKSQEMVME QAIPPDSVET PTDSETDGST PVADFDAPGT
TQKDEIVEIH EENEVASGTQ SGGTEAEAVP AQKERPPAPS SFVFQEETKE QSKMEDTLEH
TDKEVSVETV SILSKTEGTQ EADQYADEKT KDVPFFEGLE GSIDTGITVS REKVTEVALK
GEGTEEAECK KDDALELQSH AKSPPSPVER EMVVQVEREK TEAEPTHVNE EKLEHETAVT
VSEEVSKQLL QTVNVPIIDG AKEVSSLEGS PPPCLGQEEA VCTKIQVQSS EASFTLTAAA
EEEKVLGETA NILETGETLE PAGAHLVLEE KSSEKNEDFA AHPGEDAVPT GPDCQAKSTP
VIVSATTKKG LSSDLEGEKT TSLKWKSDEV DEQVACQEVK VSVAIEDLEP ENGILELETK
SSKLVQNIIQ TAVDQFVRTE ETATEMLTSE LQTQAHVIKA DSQDAGQETE KEGEEPQASA
QDETPITSAK EESESTAVGQ AHSDISKDMS EASEKTMTVE VEGSTVNDQQ LEEVVLPSEE
EGGGAGTKSV PEDDGHALLA ERIEKSLVEP KEDEKGDDVD DPENQNSALA DTDASGGLTK
ESPDTNGPKQ KEKEDAQEVE LQEGKVHSES DKAITPQAQE ELQKQERESA KSELTES*

mutated AA sequence

MVGQRDSEDV SKRDSDKEMA TKSAVVHDIT DDGQEETPEI IEQIPSSESN LEELTQPTES
QANDIGFKKV FKFVGFKFTV KKDKTEKPDT VQLLTVKKDE GEGAAGAGDH QDPSLGAGEA
ASKESEPKQS TEKPEETLKR EQSHAEISPP AESGQAVEEC KEEGEEKQEK EPSKSAESPT
SPVTSETGST FKKFFTQGWA GWRKKTSFRK PKEDEVEASE KKKEQEPEKV DTEEDGKAEV
ASEKLTASEQ AHPQEPAESA HEPRLSAEYE KVELPSEEQV SGSQGPSEEK PAPLATEVFD
EKIEVHQEEV VAEVHVSTVE ERTEEQKTEV EETAGSVPAE ELVEMDAEPQ EAEPAKELVK
LKETCVSGED PTQGADLSPD EKVLSKPPEG VVSEVEMLSS QERMKVQGSP LKKLFTSTGL
KKLSGKKQKG KRGGGDEESG EHTQVPADSP DSQEEQKGES SASSPEEPEE ITCLEKGLAE
VQQDGEAEEG ATSDGEKKRE GVTPWASFKK MVTPKKRVRR PSESDKEDEL DKVKSATLSS
TESTASEMQE EMKGSVEEPK PEEPKRKVDT SVSWEALICV GSSKKRARRG SSSDEEGGPK
AMGGDHQKAD EAGKDKETGT DGILAGSQEH DPGQGSSSPE QAGSPTEGEG VSTWESFKRL
VTPRKKSKSK LEEKSEDSIA GSGVEHSTPD TEPGKEESWV SIKKFIPGRR KKRPDGKQEQ
APVEDAGPTG ANEDDSDVPA VVPLSEYDAV EREKMEAQQA QKSAEQPEQK AATEVSKELS
ESQVHMMAAA VADGTRAATI IEERSPSWIS ASVTEPLEQV EAEAALLTEE VLEREVIAEE
EPPTVTEPLP ENREARGDTV VSEAELTPEA VTAAETAGPL GAEEGTEASA AEETTEMVSA
VSQLTDSPDT TEEATPVQEV EGGVPDIEEQ ERRTQEVLQA VAEKVKEESQ LPGTGGPEDV
LQPVQRAEAE RPEEQAEASG LKKETDVVLK VDAQEAKTEP FTQGKVVGQT TPESFEKAPQ
VTESIESSEL VTTCQAETLA GVKSQEMVME QAIPPDSVET PTDSETDGST PVADFDAPGT
TQKDEIVEIH EENEVASGTQ SGGTEAEAVP AQKERPPAPS SFVFQEETKE QSKMEDTLEH
TDKEVSVETV SILSKTEGTQ EADQYADEKT KDVPFFEGLE GSIDTGITVS REKVTEVALK
GEGTEEAECK KDDALELQSH AKSPPSPVER EMVVQVEREK TEAEPTHVNE EKLEHETAVT
VSEEVSKQLL QTVNVPIIDG AKEVSSLEGS PPPCLGQEEA VCTKIQVQSS EASFTLTAAA
EEEKVLGETA NILETGETLE PAGAHLVLEE KSSEKNEDFA AHPGEDAVPT GPDCQAKSTP
VIVSATTKKG LSSDLEGEKT TSLKWKSDEV DEQVACQEVK VSVAIEDLEP ENGILELETK
SSKLVQNIIQ TAVDQFVRTE ETATEMLTSE LQTQAHVIKA DSQDAGQETE KEGEEPQASA
QDETPITSAK EESESTAVGQ AHSDISKDMS EASEKTMTVE VEGSTVNDQQ LEEVVLPSEE
EGGGAGTKSV PEDDGHALLA ERIEKSLVEP KEDEKGDDVD DPENQNSALA DTDASGGLTK
ESPDTNGPKQ KEKEDAQEVE LQEGKVHSES DKAITPQAQE ELQKQERESA KSELTES*

speed

1.01 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

Problems