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: ENST00000371158
Querying Taster for transcript #2: ENST00000316485
Querying Taster for transcript #3: ENST00000543708
Querying Taster for transcript #4: ENST00000545929
MT speed 2.81 s - this script 3.991355 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PATJ	polymorphism_automatic	5.09592368302947e-14	simple_aae				V1360L	single base exchange	rs2498982		show file
PATJ	polymorphism_automatic	5.09592368302947e-14	simple_aae				V1360L	single base exchange	rs2498982		show file
PATJ	polymorphism_automatic	1.78967951569575e-13	simple_aae				V144L	single base exchange	rs2498982		show file
PATJ	polymorphism_automatic	2.46025422256935e-13	simple_aae				V33L	single base exchange	rs2498982		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999949 (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)

chr1:62516683G>CN/A show variant in all transcripts IGV

HGNC symbol

PATJ

Ensembl transcript ID

ENST00000316485

Genbank transcript ID

N/A

UniProt peptide

Q8NI35

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4078G>C
cDNA.4192G>C
g.308535G>C

AA changes

V1360L Score: 32 explain score(s)

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

1360

frameshift

known variant

Reference ID: rs2498982

database	homozygous (C/C)	heterozygous	allele carriers
1000G	887	1085	1972
ExAC	19393	-6019	13374

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.293	0
	-0.298	0
(flanking)	0.675	0

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1360

mutated

all conserved

1360

Ptroglodytes

all conserved

ENSPTRG00000000806

1360

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000061859

1366

Ggallus

all conserved

ENSGALG00000010934

1366

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000024964

1369

DPTHKSLT

LKPAEKLLES

Dmelanogaster

no alignment

FBgn0067864

n/a

Celegans

not conserved

C52A11.4

2019

Xtropicalis

no alignment

ENSXETG00000030379

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4749 / 4749

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

1583 / 1583

position of stopcodon in wt / mu cDNA

4863 / 4863

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

115 / 115

chromosome

strand

last intron/exon boundary

4666

theoretical NMD boundary in CDS

4501

length of CDS

4749

coding sequence (CDS) position

4078

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

4192

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

308535

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

62516683

original gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

original cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

wildtype AA sequence

MPENPATDKL QVLQVLDRLK MKLQEKGDTS QNEKLSMFYE TLKSPLFNQI LTLQQSIKQL
KGQLNHIPSD CSANFDFSRK GLLVFTDGSI TNGNVHRPSN NSTVSGLFPW TPKLGNEDFN
SVIQQMAQGR QIEYIDIERP STGGLGFSVV ALRSQNLGKV DIFVKDVQPG SVADRDQRLK
ENDQILAINH TPLDQNISHQ QAIALLQQTT GSLRLIVARE PVHTKSSTSS SLNDTTLPET
VCWGHVEEVE LINDGSGLGF GIVGGKTSGV VVRTIVPGGL ADRDGRLQTG DHILKIGGTN
VQGMTSEQVA QVLRNCGNSV RMLVARDPAG DISVTPPAPA ALPVALPTVA SKGPGSDSSL
FETYNVELVR KDGQSLGIRI VGYVGTSHTG EASGIYVKSI IPGSAAYHNG HIQVNDKIVA
VDGVNIQGFA NHDVVEVLRN AGQVVHLTLV RRKTSSSTSP LEPPSDRGTV VEPLKPPALF
LTGAVETETN VDGEDEEIKE RIDTLKNDNI QALEKLEKVP DSPENELKSR WENLLGPDYE
VMVATLDTQI ADDAELQKYS KLLPIHTLRL GVEVDSFDGH HYISSIVSGG PVDTLGLLQP
EDELLEVNGM QLYGKSRREA VSFLKEVPPP FTLVCCRRLF DDEASVDEPR RTETSLPETE
VDHNMDVNTE EDDDGELALW SPEVKIVELV KDCKGLGFSI LDYQDPLDPT RSVIVIRSLV
ADGVAERSGG LLPGDRLVSV NEYCLDNTSL AEAVEILKAV PPGLVHLGIC KPLVEDNEEE
SCYILHSSSN EDKTEFSGTI HDINSSLILE APKGFRDEPY FKEELVDEPF LDLGKSFHSQ
QKEIEQSKEA WEMHEFLTPR LQEMDEEREI LVDEEYELYQ DPSPSMELYP LSHIQEATPV
PSVNELHFGT QWLHDNEPSE SQEARTGRTV YSQEAQPYGY CPENVMKENF VMESLPSVPS
TEGNSQQGRF DDLENLNSLA KTSLDLGMIP NDVQGPSLLI DLPVVAQRRE QEDLPLYQHQ
ATRVISKASA YTGMLSSRYA TDTCELPERE EGEGEETPNF SHWGPPRIVE IFREPNVSLG
ISIVGGQTVI KRLKNGEELK GIFIKQVLED SPAGKTNALK TGDKILEVSG VDLQNASHSE
AVEAIKNAGN PVVFIVQSLS STPRVIPNVH NKANKITGNQ NQDTQEKKEK RQGTAPPPMK
LPPPYKALTD DSDENEEEDA FTDQKIRQRY ADLPGELHII ELEKDKNGLG LSLAGNKDRS
RMSIFVVGIN PEGPAAADGR MRIGDELLEI NNQILYGRSH QNASAIIKTA PSKVKLVFIR
NEDAVNQMAV TPFPVPSSSP SSIEDQSGTE PISSEEDGSV EVGIKQLPES ESFKLAVSQM
KQQKYPTKVS FSSQEIPLAP ASSYHSTDAD FTGYGGFQAP LSVDPATCPI VPGQEMIIEI
SKGRSGLGLS IVGGKDTPLF WRLGSPRAWS QHLVRAFMLH HPVTEVEGQN AIVIHEVYEE
GAAARDGRLW AGDQILEVNG VDLRNSSHEE AITALRQTPQ KVRLVVYRDE AHYRDEENLE
IFPVDLQKKA GRGLGLSIVG KR*

mutated AA sequence

MPENPATDKL QVLQVLDRLK MKLQEKGDTS QNEKLSMFYE TLKSPLFNQI LTLQQSIKQL
KGQLNHIPSD CSANFDFSRK GLLVFTDGSI TNGNVHRPSN NSTVSGLFPW TPKLGNEDFN
SVIQQMAQGR QIEYIDIERP STGGLGFSVV ALRSQNLGKV DIFVKDVQPG SVADRDQRLK
ENDQILAINH TPLDQNISHQ QAIALLQQTT GSLRLIVARE PVHTKSSTSS SLNDTTLPET
VCWGHVEEVE LINDGSGLGF GIVGGKTSGV VVRTIVPGGL ADRDGRLQTG DHILKIGGTN
VQGMTSEQVA QVLRNCGNSV RMLVARDPAG DISVTPPAPA ALPVALPTVA SKGPGSDSSL
FETYNVELVR KDGQSLGIRI VGYVGTSHTG EASGIYVKSI IPGSAAYHNG HIQVNDKIVA
VDGVNIQGFA NHDVVEVLRN AGQVVHLTLV RRKTSSSTSP LEPPSDRGTV VEPLKPPALF
LTGAVETETN VDGEDEEIKE RIDTLKNDNI QALEKLEKVP DSPENELKSR WENLLGPDYE
VMVATLDTQI ADDAELQKYS KLLPIHTLRL GVEVDSFDGH HYISSIVSGG PVDTLGLLQP
EDELLEVNGM QLYGKSRREA VSFLKEVPPP FTLVCCRRLF DDEASVDEPR RTETSLPETE
VDHNMDVNTE EDDDGELALW SPEVKIVELV KDCKGLGFSI LDYQDPLDPT RSVIVIRSLV
ADGVAERSGG LLPGDRLVSV NEYCLDNTSL AEAVEILKAV PPGLVHLGIC KPLVEDNEEE
SCYILHSSSN EDKTEFSGTI HDINSSLILE APKGFRDEPY FKEELVDEPF LDLGKSFHSQ
QKEIEQSKEA WEMHEFLTPR LQEMDEEREI LVDEEYELYQ DPSPSMELYP LSHIQEATPV
PSVNELHFGT QWLHDNEPSE SQEARTGRTV YSQEAQPYGY CPENVMKENF VMESLPSVPS
TEGNSQQGRF DDLENLNSLA KTSLDLGMIP NDVQGPSLLI DLPVVAQRRE QEDLPLYQHQ
ATRVISKASA YTGMLSSRYA TDTCELPERE EGEGEETPNF SHWGPPRIVE IFREPNVSLG
ISIVGGQTVI KRLKNGEELK GIFIKQVLED SPAGKTNALK TGDKILEVSG VDLQNASHSE
AVEAIKNAGN PVVFIVQSLS STPRVIPNVH NKANKITGNQ NQDTQEKKEK RQGTAPPPMK
LPPPYKALTD DSDENEEEDA FTDQKIRQRY ADLPGELHII ELEKDKNGLG LSLAGNKDRS
RMSIFVVGIN PEGPAAADGR MRIGDELLEI NNQILYGRSH QNASAIIKTA PSKVKLVFIR
NEDAVNQMAV TPFPVPSSSP SSIEDQSGTE PISSEEDGSL EVGIKQLPES ESFKLAVSQM
KQQKYPTKVS FSSQEIPLAP ASSYHSTDAD FTGYGGFQAP LSVDPATCPI VPGQEMIIEI
SKGRSGLGLS IVGGKDTPLF WRLGSPRAWS QHLVRAFMLH HPVTEVEGQN AIVIHEVYEE
GAAARDGRLW AGDQILEVNG VDLRNSSHEE AITALRQTPQ KVRLVVYRDE AHYRDEENLE
IFPVDLQKKA GRGLGLSIVG KR*

speed

0.91 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: 0.999999999999949 (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)

chr1:62516683G>CN/A show variant in all transcripts IGV

HGNC symbol

PATJ

Ensembl transcript ID

ENST00000371158

Genbank transcript ID

NM_176877

UniProt peptide

Q8NI35

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4078G>C
cDNA.4192G>C
g.308535G>C

AA changes

V1360L Score: 32 explain score(s)

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

1360

frameshift

known variant

Reference ID: rs2498982

database	homozygous (C/C)	heterozygous	allele carriers
1000G	887	1085	1972
ExAC	19393	-6019	13374

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.293	0
	-0.298	0
(flanking)	0.675	0

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1360

mutated

all conserved

1360

Ptroglodytes

all conserved

ENSPTRG00000000806

1360

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000061859

1366

Ggallus

all conserved

ENSGALG00000010934

1366

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000024964

1369

DPTHKSLT

LKPAEKLLES

Dmelanogaster

no alignment

FBgn0067864

n/a

Celegans

not conserved

C52A11.4

2019

Xtropicalis

no alignment

ENSXETG00000030379

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5406 / 5406

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

1802 / 1802

position of stopcodon in wt / mu cDNA

5520 / 5520

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

115 / 115

chromosome

strand

last intron/exon boundary

5493

theoretical NMD boundary in CDS

5328

length of CDS

5406

coding sequence (CDS) position

4078

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

4192

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

308535

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

62516683

original gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

original cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

wildtype AA sequence

MPENPATDKL QVLQVLDRLK MKLQEKGDTS QNEKLSMFYE TLKSPLFNQI LTLQQSIKQL
KGQLNHIPSD CSANFDFSRK GLLVFTDGSI TNGNVHRPSN NSTVSGLFPW TPKLGNEDFN
SVIQQMAQGR QIEYIDIERP STGGLGFSVV ALRSQNLGKV DIFVKDVQPG SVADRDQRLK
ENDQILAINH TPLDQNISHQ QAIALLQQTT GSLRLIVARE PVHTKSSTSS SLNDTTLPET
VCWGHVEEVE LINDGSGLGF GIVGGKTSGV VVRTIVPGGL ADRDGRLQTG DHILKIGGTN
VQGMTSEQVA QVLRNCGNSV RMLVARDPAG DISVTPPAPA ALPVALPTVA SKGPGSDSSL
FETYNVELVR KDGQSLGIRI VGYVGTSHTG EASGIYVKSI IPGSAAYHNG HIQVNDKIVA
VDGVNIQGFA NHDVVEVLRN AGQVVHLTLV RRKTSSSTSP LEPPSDRGTV VEPLKPPALF
LTGAVETETN VDGEDEEIKE RIDTLKNDNI QALEKLEKVP DSPENELKSR WENLLGPDYE
VMVATLDTQI ADDAELQKYS KLLPIHTLRL GVEVDSFDGH HYISSIVSGG PVDTLGLLQP
EDELLEVNGM QLYGKSRREA VSFLKEVPPP FTLVCCRRLF DDEASVDEPR RTETSLPETE
VDHNMDVNTE EDDDGELALW SPEVKIVELV KDCKGLGFSI LDYQDPLDPT RSVIVIRSLV
ADGVAERSGG LLPGDRLVSV NEYCLDNTSL AEAVEILKAV PPGLVHLGIC KPLVEDNEEE
SCYILHSSSN EDKTEFSGTI HDINSSLILE APKGFRDEPY FKEELVDEPF LDLGKSFHSQ
QKEIEQSKEA WEMHEFLTPR LQEMDEEREI LVDEEYELYQ DPSPSMELYP LSHIQEATPV
PSVNELHFGT QWLHDNEPSE SQEARTGRTV YSQEAQPYGY CPENVMKENF VMESLPSVPS
TEGNSQQGRF DDLENLNSLA KTSLDLGMIP NDVQGPSLLI DLPVVAQRRE QEDLPLYQHQ
ATRVISKASA YTGMLSSRYA TDTCELPERE EGEGEETPNF SHWGPPRIVE IFREPNVSLG
ISIVGGQTVI KRLKNGEELK GIFIKQVLED SPAGKTNALK TGDKILEVSG VDLQNASHSE
AVEAIKNAGN PVVFIVQSLS STPRVIPNVH NKANKITGNQ NQDTQEKKEK RQGTAPPPMK
LPPPYKALTD DSDENEEEDA FTDQKIRQRY ADLPGELHII ELEKDKNGLG LSLAGNKDRS
RMSIFVVGIN PEGPAAADGR MRIGDELLEI NNQILYGRSH QNASAIIKTA PSKVKLVFIR
NEDAVNQMAV TPFPVPSSSP SSIEDQSGTE PISSEEDGSV EVGIKQLPES ESFKLAVSQM
KQQKYPTKVS FSSQEIPLAP ASSYHSTDAD FTGYGGFQAP LSVDPATCPI VPGQEMIIEI
SKGRSGLGLS IVGGKDTPLN AIVIHEVYEE GAAARDGRLW AGDQILEVNG VDLRNSSHEE
AITALRQTPQ KVRLVVYRDE AHYRDEENLE IFPVDLQKKA GRGLGLSIVG KRNGSGVFIS
DIVKGGAADL DGRLIQGDQI LSVNGEDMRN ASQETVATIL KCAQGLVQLE IGRLRAGSWT
SARTTSQNSQ GSQQSAHSSC HPSFAPVITG LQNLVGTKRV SDPSQKNSGT DMEPRTVEIN
RELSDALGIS IAGGRGSPLG DIPVFIAMIQ ASGVAARTQK LKVGDRIVSI NGQPLDGLSH
ADVVNLLKNA YGRIILQVVA DTNISAIAAQ LENMSTGYHL GSPTAEHHPE DTEEQLQMTA
D*

mutated AA sequence

MPENPATDKL QVLQVLDRLK MKLQEKGDTS QNEKLSMFYE TLKSPLFNQI LTLQQSIKQL
KGQLNHIPSD CSANFDFSRK GLLVFTDGSI TNGNVHRPSN NSTVSGLFPW TPKLGNEDFN
SVIQQMAQGR QIEYIDIERP STGGLGFSVV ALRSQNLGKV DIFVKDVQPG SVADRDQRLK
ENDQILAINH TPLDQNISHQ QAIALLQQTT GSLRLIVARE PVHTKSSTSS SLNDTTLPET
VCWGHVEEVE LINDGSGLGF GIVGGKTSGV VVRTIVPGGL ADRDGRLQTG DHILKIGGTN
VQGMTSEQVA QVLRNCGNSV RMLVARDPAG DISVTPPAPA ALPVALPTVA SKGPGSDSSL
FETYNVELVR KDGQSLGIRI VGYVGTSHTG EASGIYVKSI IPGSAAYHNG HIQVNDKIVA
VDGVNIQGFA NHDVVEVLRN AGQVVHLTLV RRKTSSSTSP LEPPSDRGTV VEPLKPPALF
LTGAVETETN VDGEDEEIKE RIDTLKNDNI QALEKLEKVP DSPENELKSR WENLLGPDYE
VMVATLDTQI ADDAELQKYS KLLPIHTLRL GVEVDSFDGH HYISSIVSGG PVDTLGLLQP
EDELLEVNGM QLYGKSRREA VSFLKEVPPP FTLVCCRRLF DDEASVDEPR RTETSLPETE
VDHNMDVNTE EDDDGELALW SPEVKIVELV KDCKGLGFSI LDYQDPLDPT RSVIVIRSLV
ADGVAERSGG LLPGDRLVSV NEYCLDNTSL AEAVEILKAV PPGLVHLGIC KPLVEDNEEE
SCYILHSSSN EDKTEFSGTI HDINSSLILE APKGFRDEPY FKEELVDEPF LDLGKSFHSQ
QKEIEQSKEA WEMHEFLTPR LQEMDEEREI LVDEEYELYQ DPSPSMELYP LSHIQEATPV
PSVNELHFGT QWLHDNEPSE SQEARTGRTV YSQEAQPYGY CPENVMKENF VMESLPSVPS
TEGNSQQGRF DDLENLNSLA KTSLDLGMIP NDVQGPSLLI DLPVVAQRRE QEDLPLYQHQ
ATRVISKASA YTGMLSSRYA TDTCELPERE EGEGEETPNF SHWGPPRIVE IFREPNVSLG
ISIVGGQTVI KRLKNGEELK GIFIKQVLED SPAGKTNALK TGDKILEVSG VDLQNASHSE
AVEAIKNAGN PVVFIVQSLS STPRVIPNVH NKANKITGNQ NQDTQEKKEK RQGTAPPPMK
LPPPYKALTD DSDENEEEDA FTDQKIRQRY ADLPGELHII ELEKDKNGLG LSLAGNKDRS
RMSIFVVGIN PEGPAAADGR MRIGDELLEI NNQILYGRSH QNASAIIKTA PSKVKLVFIR
NEDAVNQMAV TPFPVPSSSP SSIEDQSGTE PISSEEDGSL EVGIKQLPES ESFKLAVSQM
KQQKYPTKVS FSSQEIPLAP ASSYHSTDAD FTGYGGFQAP LSVDPATCPI VPGQEMIIEI
SKGRSGLGLS IVGGKDTPLN AIVIHEVYEE GAAARDGRLW AGDQILEVNG VDLRNSSHEE
AITALRQTPQ KVRLVVYRDE AHYRDEENLE IFPVDLQKKA GRGLGLSIVG KRNGSGVFIS
DIVKGGAADL DGRLIQGDQI LSVNGEDMRN ASQETVATIL KCAQGLVQLE IGRLRAGSWT
SARTTSQNSQ GSQQSAHSSC HPSFAPVITG LQNLVGTKRV SDPSQKNSGT DMEPRTVEIN
RELSDALGIS IAGGRGSPLG DIPVFIAMIQ ASGVAARTQK LKVGDRIVSI NGQPLDGLSH
ADVVNLLKNA YGRIILQVVA DTNISAIAAQ LENMSTGYHL GSPTAEHHPE DTEEQLQMTA
D*

speed

0.87 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999821 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:62516683G>CN/A show variant in all transcripts IGV

HGNC symbol

PATJ

Ensembl transcript ID

ENST00000543708

Genbank transcript ID

N/A

UniProt peptide

Q8NI35

alteration type

single base exchange

alteration region

CDS

DNA changes

c.430G>C
cDNA.508G>C
g.308535G>C

AA changes

V144L Score: 32 explain score(s)

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

144

frameshift

known variant

Reference ID: rs2498982

database	homozygous (C/C)	heterozygous	allele carriers
1000G	887	1085	1972
ExAC	19393	-6019	13374

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.293	0
	-0.298	0
(flanking)	0.675	0

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

144

mutated

all conserved

144

Ptroglodytes

all conserved

ENSPTRG00000000806

1360

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000061859

1366

Ggallus

all conserved

ENSGALG00000010934

1366

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000024964

1355

DPTHKSLT

Dmelanogaster

not conserved

FBgn0067864

446

TTPSRSITR

Celegans

not conserved

C52A11.4

2021

Xtropicalis

no alignment

ENSXETG00000030379

n/a

protein features

start (aa)	end (aa)	feature	details
134	221	DOMAIN	PDZ 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1359 / 1359

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

453 / 453

position of stopcodon in wt / mu cDNA

1437 / 1437

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

79 / 79

chromosome

strand

last intron/exon boundary

1324

theoretical NMD boundary in CDS

1195

length of CDS

1359

coding sequence (CDS) position

430

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

508

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

308535

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

62516683

original gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

original cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

wildtype AA sequence

MVQGGFPEKI RQRYADLPGE LHIIELEKDK NGLGLSLAGN KDRSRMSIFV VGINPEGPAA
ADGRMRIGDE LLEINNQILY GRSHQNASAI IKTAPSKVKL VFIRNEDAVN QMAVTPFPVP
SSSPSSIEDQ SGTEPISSEE DGSVEVGIKQ LPESESFKLA VSQMKQQKYP TKVSFSSQEI
PLAPASSYHS TDADFTGYGG FQAPLSVDPA TCPIVPGQEM IIEISKGRSG LGLSIVGGKD
TPLFWRLGSP RAWSQHLVRA FMLHHPVTEV EGQNAIVIHE VYEEGAAARD GRLWAGDQIL
EVNGVDLRNS SHEEAITALR QTPQKVRLVV YRDEAHYRDE ENLEIFPVDL QKKAGRGLGL
SIVGKRNGSG VFISDIVKGG AADLDGRLIQ GDQILSVNGE DMRNASQETV ATILKCAQGL
VQLEIGRLRA GSWTSARTTS QNSQVVDGFS SD*

mutated AA sequence

MVQGGFPEKI RQRYADLPGE LHIIELEKDK NGLGLSLAGN KDRSRMSIFV VGINPEGPAA
ADGRMRIGDE LLEINNQILY GRSHQNASAI IKTAPSKVKL VFIRNEDAVN QMAVTPFPVP
SSSPSSIEDQ SGTEPISSEE DGSLEVGIKQ LPESESFKLA VSQMKQQKYP TKVSFSSQEI
PLAPASSYHS TDADFTGYGG FQAPLSVDPA TCPIVPGQEM IIEISKGRSG LGLSIVGGKD
TPLFWRLGSP RAWSQHLVRA FMLHHPVTEV EGQNAIVIHE VYEEGAAARD GRLWAGDQIL
EVNGVDLRNS SHEEAITALR QTPQKVRLVV YRDEAHYRDE ENLEIFPVDL QKKAGRGLGL
SIVGKRNGSG VFISDIVKGG AADLDGRLIQ GDQILSVNGE DMRNASQETV ATILKCAQGL
VQLEIGRLRA GSWTSARTTS QNSQVVDGFS SD*

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999754 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:62516683G>CN/A show variant in all transcripts IGV

HGNC symbol

PATJ

Ensembl transcript ID

ENST00000545929

Genbank transcript ID

N/A

UniProt peptide

Q8NI35

alteration type

single base exchange

alteration region

CDS

DNA changes

c.97G>C
cDNA.389G>C
g.308535G>C

AA changes

V33L Score: 32 explain score(s)

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

frameshift

known variant

Reference ID: rs2498982

database	homozygous (C/C)	heterozygous	allele carriers
1000G	887	1085	1972
ExAC	19393	-6019	13374

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.293	0
	-0.298	0
(flanking)	0.675	0

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000000806

1360

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000061859

1366

Ggallus

all conserved

ENSGALG00000010934

1366

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000024964

n/a

Dmelanogaster

no alignment

FBgn0067864

n/a

Celegans

no alignment

C52A11.4

n/a

Xtropicalis

no alignment

ENSXETG00000030379

n/a

protein features

start (aa)	end (aa)	feature	details
1	65	DOMAIN	L27.	lost
32	43	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

594 / 594

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

198 / 198

position of stopcodon in wt / mu cDNA

886 / 886

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

293 / 293

chromosome

strand

last intron/exon boundary

689

theoretical NMD boundary in CDS

346

length of CDS

594

coding sequence (CDS) position

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

389

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

308535

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

62516683

original gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered gDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

original cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA

altered cDNA sequence snippet

GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA

wildtype AA sequence

MAVTPFPVPS SSPSSIEDQS GTEPISSEED GSVEVGIKQL PESESFKLAV SQMKQQKYPT
KVSFSSQEIP LAPASSYHST DADFTGYGGF QAPLSVDPAT CPIVPGQEMI IEISKGRSGL
GLSIVGGKDT PLVNGVDLRN SSHEEAITAL RQTPQKVRLV VYRDEAHYRD EENLEIFPVD
LQKKAGRGLG LSIVGKR*

mutated AA sequence

MAVTPFPVPS SSPSSIEDQS GTEPISSEED GSLEVGIKQL PESESFKLAV SQMKQQKYPT
KVSFSSQEIP LAPASSYHST DADFTGYGGF QAPLSVDPAT CPIVPGQEMI IEISKGRSGL
GLSIVGGKDT PLVNGVDLRN SSHEEAITAL RQTPQKVRLV VYRDEAHYRD EENLEIFPVD
LQKKAGRGLG LSIVGKR*

speed

0.26 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