Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000338008
Querying Taster for transcript #2: ENST00000510158
Querying Taster for transcript #3: ENST00000505560
MT speed 0 s - this script 3.730245 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZFYVE16polymorphism_automatic6.02962124673923e-13simple_aaeaffectedI192Tsingle base exchangers2544600show file
ZFYVE16polymorphism_automatic6.02962124673923e-13simple_aaeaffectedI192Tsingle base exchangers2544600show file
ZFYVE16polymorphism_automatic6.02962124673923e-13simple_aaeaffectedI192Tsingle base exchangers2544600show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999397 (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) chr5:79733079T>CN/A show variant in all transcripts   IGV
HGNC symbol ZFYVE16
Ensembl transcript ID ENST00000338008
Genbank transcript ID NM_014733
UniProt peptide Q7Z3T8
alteration type single base exchange
alteration region CDS
DNA changes c.575T>C
cDNA.755T>C
g.29248T>C
AA changes I192T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 192
frameshift no
known variant Reference ID: rs2544600
databasehomozygous (C/C)heterozygousallele carriers
1000G15517092260
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1010.015
-0.8340
(flanking)0.6880.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29253wt: 0.29 / mu: 0.46wt: TCAGTTCTGAATTAC
mu: CCAGTTCTGAATTAC		 AGTT|ctga
Donor increased29245wt: 0.26 / mu: 0.51wt: GAATGATATCAGTTC
mu: GAATGATACCAGTTC		 ATGA|tatc
Donor marginally increased29250wt: 0.5836 / mu: 0.6165 (marginal change - not scored)wt: ATATCAGTTCTGAAT
mu: ATACCAGTTCTGAAT		 ATCA|gttc
Donor increased29243wt: 0.22 / mu: 0.55wt: CAGAATGATATCAGT
mu: CAGAATGATACCAGT		 GAAT|gata
distance from splice site 505
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      192DSDTVREQQNDISSELQNREIGGI
mutated  not conserved    192DSDTVREQQNDTSSELQNREIGG
Ptroglodytes  all identical  ENSPTRG00000017038  192DSNTVREQQNDISSELQNREIGG
Mmulatta  not conserved  ENSMMUG00000023177  192DSDTVREPQNDTSSELQNREIGG
Fcatus  all conserved  ENSFCAG00000014689  163DNNTVREEQNDVHSELQNREISG
Mmusculus  all identical  ENSMUSG00000021706  189GSNAVREEQNNINAGIKNRDIS-
Ggallus  no alignment  ENSGALG00000023086  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000075747  179SEILKRDSEINCNS
Dmelanogaster  no alignment  FBgn0026369  n/a
Celegans  no alignment  D1022.7  n/a
Xtropicalis  no alignment  ENSXETG00000031551  n/a
protein features
start (aa)end (aa)featuredetails 
219219MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
221221MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
385385CONFLICTC -> S (in Ref. 3; CAD97666).might get lost (downstream of altered splice site)
446446MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
487487CONFLICTT -> A (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
616616CONFLICTT -> I (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
737739TURNmight get lost (downstream of altered splice site)
747749HELIXmight get lost (downstream of altered splice site)
747805ZN_FINGFYVE-type.might get lost (downstream of altered splice site)
753753MUTAGENC->S: Abolishes localization to endosomes and association with PI3P.might get lost (downstream of altered splice site)
754756TURNmight get lost (downstream of altered splice site)
762764STRANDmight get lost (downstream of altered splice site)
770772TURNmight get lost (downstream of altered splice site)
778780HELIXmight get lost (downstream of altered splice site)
783786STRANDmight get lost (downstream of altered splice site)
788790TURNmight get lost (downstream of altered splice site)
791796STRANDmight get lost (downstream of altered splice site)
798807HELIXmight get lost (downstream of altered splice site)
815815MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
845845MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
934934CONFLICTN -> D (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
939939MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
946946MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12091209MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12101210MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217CONFLICTL -> F (in Ref. 3; CAI45932).might get lost (downstream of altered splice site)
13081308CONFLICTA -> T (in Ref. 3; CAD97666).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4620 / 4620
position (AA) of stopcodon in wt / mu AA sequence 1540 / 1540
position of stopcodon in wt / mu cDNA 4800 / 4800
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 181 / 181
chromosome 5
strand 1
last intron/exon boundary 4642
theoretical NMD boundary in CDS 4411
length of CDS 4620
coding sequence (CDS) position 575
cDNA position
(for ins/del: last normal base / first normal base)		 755
gDNA position
(for ins/del: last normal base / first normal base)		 29248
chromosomal position
(for ins/del: last normal base / first normal base)		 79733079
original gDNA sequence snippet CAGAGAACAACAGAATGATATCAGTTCTGAATTACAAAATA
altered gDNA sequence snippet CAGAGAACAACAGAATGATACCAGTTCTGAATTACAAAATA
original cDNA sequence snippet CAGAGAACAACAGAATGATATCAGTTCTGAATTACAAAATA
altered cDNA sequence snippet CAGAGAACAACAGAATGATACCAGTTCTGAATTACAAAATA
wildtype AA sequence MDSYFKAAVS DLDKLLDDFE QNPDEQDYLQ DVQNAYDSNH CSVSSELASS QRTSLLPKDQ
ECVNSCASSE TSYGTNESSL NEKTLKGLTS IQNEKNVTGL DLLSSVDGGT SDEIQPLYMG
RCSKPICDLI SDMGNLVHAT NSEEDIKKLL PDDFKSNADS LIGLDLSSVS DTPCVSSTDH
DSDTVREQQN DISSELQNRE IGGIKELGIK VDTTLSDSYN YSGTENLKDK KIFNQLESIV
DFNMSSALTR QSSKMFHAKD KLQHKSQPCG LLKDVGLVKE EVDVAVITAA ECLKEEGKTS
ALTCSLPKNE DLCLNDSNSR DENFKLPDFS FQEDKTVIKQ SAQEDSKSLD LKDNDVIQDS
SSALHVSSKD VPSSLSCLPA SGSMCGSLIE SKARGDFLPQ HEHKDNIQDA VTIHEEIQNS
VVLGGEPFKE NDLLKQEKCK SILLQSLIEG MEDRKIDPDQ TVIRAESLDG GDTSSTVVES
QEGLSGTHVP ESSDCCEGFI NTFSSNDMDG QDLDYFNIDE GAKSGPLISD AELDAFLTEQ
YLQTTNIKSF EENVNDSKSQ MNQIDMKGLD DGNINNIYFN AEAGAIGESH GINIICEIVD
KQNTIENGLS LGEKSTIPVQ QGLPTSKSEI TNQLSVSDIN SQSVGGARPK QLFSLPSRTR
SSKDLNKPDV PDTIESEPST ADTVVPITCA IDSTADPQVS FNSNYIDIES NSEGGSSFVT
ANEDSVPENT CKEGLVLGQK QPTWVPDSEA PNCMNCQVKF TFTKRRHHCR ACGKVFCGVC
CNRKCKLQYL EKEARVCVVC YETISKAQAF ERMMSPTGSN LKSNHSDECT TVQPPQENQT
SSIPSPATLP VSALKQPGVE GLCSKEQKRV WFADGILPNG EVADTTKLSS GSKRCSEDFS
PLSPDVPMTV NTVDHSHSTT VEKPNNETGD ITRNEIIQSP ISQVPSVEKL SMNTGNEGLP
TSGSFTLDDD VFAETEEPSS PTGVLVNSNL PIASISDYRL LCDINKYVCN KISLLPNDED
SLPPLLVASG EKGSVPVVEE HPSHEQIILL LEGESFHPVT FVLNANLLVN VKFIFYSSDK
YWYFSTNGLH GLGQAEIIIL LLCLPNEDTI PKDIFRLFIT IYKDALKGKY IENLDNITFT
ESFLSSKDHG GFLFITPTFQ KLDDLSLPSN PFLCGILIQK LEIPWAKVFP MRLMLRLGAE
YKAYPAPLTS IRGRKPLFGE IGHTIMNLLV DLRNYQYTLH NIDQLLIHME MGKSCIKIPR
KKYSDVMKVL NSSNEHVISI GASFSTEADS HLVCIQNDGI YETQANSATG HPRKVTGASF
VVFNGALKTS SGFLAKSSIV EDGLMVQITP ETMNGLRLAL REQKDFKITC GKVDAVDLRE
YVDICWVDAE EKGNKGVISS VDGISLQGFP SEKIKLEADF ETDEKIVKCT EVFYFLKDQD
LSILSTSYQF AKEIAMACSA ALCPHLKTLK SNGMNKIGLR VSIDTDMVEF QAGSEGQLLP
QHYLNDLDSA LIPVIHGGTS NSSLPLEIEL VFFIIEHLF*
mutated AA sequence MDSYFKAAVS DLDKLLDDFE QNPDEQDYLQ DVQNAYDSNH CSVSSELASS QRTSLLPKDQ
ECVNSCASSE TSYGTNESSL NEKTLKGLTS IQNEKNVTGL DLLSSVDGGT SDEIQPLYMG
RCSKPICDLI SDMGNLVHAT NSEEDIKKLL PDDFKSNADS LIGLDLSSVS DTPCVSSTDH
DSDTVREQQN DTSSELQNRE IGGIKELGIK VDTTLSDSYN YSGTENLKDK KIFNQLESIV
DFNMSSALTR QSSKMFHAKD KLQHKSQPCG LLKDVGLVKE EVDVAVITAA ECLKEEGKTS
ALTCSLPKNE DLCLNDSNSR DENFKLPDFS FQEDKTVIKQ SAQEDSKSLD LKDNDVIQDS
SSALHVSSKD VPSSLSCLPA SGSMCGSLIE SKARGDFLPQ HEHKDNIQDA VTIHEEIQNS
VVLGGEPFKE NDLLKQEKCK SILLQSLIEG MEDRKIDPDQ TVIRAESLDG GDTSSTVVES
QEGLSGTHVP ESSDCCEGFI NTFSSNDMDG QDLDYFNIDE GAKSGPLISD AELDAFLTEQ
YLQTTNIKSF EENVNDSKSQ MNQIDMKGLD DGNINNIYFN AEAGAIGESH GINIICEIVD
KQNTIENGLS LGEKSTIPVQ QGLPTSKSEI TNQLSVSDIN SQSVGGARPK QLFSLPSRTR
SSKDLNKPDV PDTIESEPST ADTVVPITCA IDSTADPQVS FNSNYIDIES NSEGGSSFVT
ANEDSVPENT CKEGLVLGQK QPTWVPDSEA PNCMNCQVKF TFTKRRHHCR ACGKVFCGVC
CNRKCKLQYL EKEARVCVVC YETISKAQAF ERMMSPTGSN LKSNHSDECT TVQPPQENQT
SSIPSPATLP VSALKQPGVE GLCSKEQKRV WFADGILPNG EVADTTKLSS GSKRCSEDFS
PLSPDVPMTV NTVDHSHSTT VEKPNNETGD ITRNEIIQSP ISQVPSVEKL SMNTGNEGLP
TSGSFTLDDD VFAETEEPSS PTGVLVNSNL PIASISDYRL LCDINKYVCN KISLLPNDED
SLPPLLVASG EKGSVPVVEE HPSHEQIILL LEGESFHPVT FVLNANLLVN VKFIFYSSDK
YWYFSTNGLH GLGQAEIIIL LLCLPNEDTI PKDIFRLFIT IYKDALKGKY IENLDNITFT
ESFLSSKDHG GFLFITPTFQ KLDDLSLPSN PFLCGILIQK LEIPWAKVFP MRLMLRLGAE
YKAYPAPLTS IRGRKPLFGE IGHTIMNLLV DLRNYQYTLH NIDQLLIHME MGKSCIKIPR
KKYSDVMKVL NSSNEHVISI GASFSTEADS HLVCIQNDGI YETQANSATG HPRKVTGASF
VVFNGALKTS SGFLAKSSIV EDGLMVQITP ETMNGLRLAL REQKDFKITC GKVDAVDLRE
YVDICWVDAE EKGNKGVISS VDGISLQGFP SEKIKLEADF ETDEKIVKCT EVFYFLKDQD
LSILSTSYQF AKEIAMACSA ALCPHLKTLK SNGMNKIGLR VSIDTDMVEF QAGSEGQLLP
QHYLNDLDSA LIPVIHGGTS NSSLPLEIEL VFFIIEHLF*
speed 0.80 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999397 (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) chr5:79733079T>CN/A show variant in all transcripts   IGV
HGNC symbol ZFYVE16
Ensembl transcript ID ENST00000510158
Genbank transcript ID NM_001105251
UniProt peptide Q7Z3T8
alteration type single base exchange
alteration region CDS
DNA changes c.575T>C
cDNA.872T>C
g.29248T>C
AA changes I192T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 192
frameshift no
known variant Reference ID: rs2544600
databasehomozygous (C/C)heterozygousallele carriers
1000G15517092260
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1010.015
-0.8340
(flanking)0.6880.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29253wt: 0.29 / mu: 0.46wt: TCAGTTCTGAATTAC
mu: CCAGTTCTGAATTAC		 AGTT|ctga
Donor increased29245wt: 0.26 / mu: 0.51wt: GAATGATATCAGTTC
mu: GAATGATACCAGTTC		 ATGA|tatc
Donor marginally increased29250wt: 0.5836 / mu: 0.6165 (marginal change - not scored)wt: ATATCAGTTCTGAAT
mu: ATACCAGTTCTGAAT		 ATCA|gttc
Donor increased29243wt: 0.22 / mu: 0.55wt: CAGAATGATATCAGT
mu: CAGAATGATACCAGT		 GAAT|gata
distance from splice site 505
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      192DSDTVREQQNDISSELQNREIGGI
mutated  not conserved    192DSDTVREQQNDTSSELQNREIGG
Ptroglodytes  all identical  ENSPTRG00000017038  192DSNTVREQQNDISSELQNREIGG
Mmulatta  not conserved  ENSMMUG00000023177  192DSDTVREPQNDTSSELQNREIGG
Fcatus  all conserved  ENSFCAG00000014689  163DNNTVREEQNDVHSELQNREISG
Mmusculus  all identical  ENSMUSG00000021706  189GSNAVREEQNNINAGIKNRDIS-
Ggallus  no alignment  ENSGALG00000023086  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000075747  179SEILKRDSEINCNS
Dmelanogaster  no alignment  FBgn0026369  n/a
Celegans  no alignment  D1022.7  n/a
Xtropicalis  no alignment  ENSXETG00000031551  n/a
protein features
start (aa)end (aa)featuredetails 
219219MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
221221MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
385385CONFLICTC -> S (in Ref. 3; CAD97666).might get lost (downstream of altered splice site)
446446MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
487487CONFLICTT -> A (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
616616CONFLICTT -> I (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
737739TURNmight get lost (downstream of altered splice site)
747749HELIXmight get lost (downstream of altered splice site)
747805ZN_FINGFYVE-type.might get lost (downstream of altered splice site)
753753MUTAGENC->S: Abolishes localization to endosomes and association with PI3P.might get lost (downstream of altered splice site)
754756TURNmight get lost (downstream of altered splice site)
762764STRANDmight get lost (downstream of altered splice site)
770772TURNmight get lost (downstream of altered splice site)
778780HELIXmight get lost (downstream of altered splice site)
783786STRANDmight get lost (downstream of altered splice site)
788790TURNmight get lost (downstream of altered splice site)
791796STRANDmight get lost (downstream of altered splice site)
798807HELIXmight get lost (downstream of altered splice site)
815815MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
845845MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
934934CONFLICTN -> D (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
939939MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
946946MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12091209MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12101210MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217CONFLICTL -> F (in Ref. 3; CAI45932).might get lost (downstream of altered splice site)
13081308CONFLICTA -> T (in Ref. 3; CAD97666).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4620 / 4620
position (AA) of stopcodon in wt / mu AA sequence 1540 / 1540
position of stopcodon in wt / mu cDNA 4917 / 4917
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 298 / 298
chromosome 5
strand 1
last intron/exon boundary 4759
theoretical NMD boundary in CDS 4411
length of CDS 4620
coding sequence (CDS) position 575
cDNA position
(for ins/del: last normal base / first normal base)		 872
gDNA position
(for ins/del: last normal base / first normal base)		 29248
chromosomal position
(for ins/del: last normal base / first normal base)		 79733079
original gDNA sequence snippet CAGAGAACAACAGAATGATATCAGTTCTGAATTACAAAATA
altered gDNA sequence snippet CAGAGAACAACAGAATGATACCAGTTCTGAATTACAAAATA
original cDNA sequence snippet CAGAGAACAACAGAATGATATCAGTTCTGAATTACAAAATA
altered cDNA sequence snippet CAGAGAACAACAGAATGATACCAGTTCTGAATTACAAAATA
wildtype AA sequence MDSYFKAAVS DLDKLLDDFE QNPDEQDYLQ DVQNAYDSNH CSVSSELASS QRTSLLPKDQ
ECVNSCASSE TSYGTNESSL NEKTLKGLTS IQNEKNVTGL DLLSSVDGGT SDEIQPLYMG
RCSKPICDLI SDMGNLVHAT NSEEDIKKLL PDDFKSNADS LIGLDLSSVS DTPCVSSTDH
DSDTVREQQN DISSELQNRE IGGIKELGIK VDTTLSDSYN YSGTENLKDK KIFNQLESIV
DFNMSSALTR QSSKMFHAKD KLQHKSQPCG LLKDVGLVKE EVDVAVITAA ECLKEEGKTS
ALTCSLPKNE DLCLNDSNSR DENFKLPDFS FQEDKTVIKQ SAQEDSKSLD LKDNDVIQDS
SSALHVSSKD VPSSLSCLPA SGSMCGSLIE SKARGDFLPQ HEHKDNIQDA VTIHEEIQNS
VVLGGEPFKE NDLLKQEKCK SILLQSLIEG MEDRKIDPDQ TVIRAESLDG GDTSSTVVES
QEGLSGTHVP ESSDCCEGFI NTFSSNDMDG QDLDYFNIDE GAKSGPLISD AELDAFLTEQ
YLQTTNIKSF EENVNDSKSQ MNQIDMKGLD DGNINNIYFN AEAGAIGESH GINIICEIVD
KQNTIENGLS LGEKSTIPVQ QGLPTSKSEI TNQLSVSDIN SQSVGGARPK QLFSLPSRTR
SSKDLNKPDV PDTIESEPST ADTVVPITCA IDSTADPQVS FNSNYIDIES NSEGGSSFVT
ANEDSVPENT CKEGLVLGQK QPTWVPDSEA PNCMNCQVKF TFTKRRHHCR ACGKVFCGVC
CNRKCKLQYL EKEARVCVVC YETISKAQAF ERMMSPTGSN LKSNHSDECT TVQPPQENQT
SSIPSPATLP VSALKQPGVE GLCSKEQKRV WFADGILPNG EVADTTKLSS GSKRCSEDFS
PLSPDVPMTV NTVDHSHSTT VEKPNNETGD ITRNEIIQSP ISQVPSVEKL SMNTGNEGLP
TSGSFTLDDD VFAETEEPSS PTGVLVNSNL PIASISDYRL LCDINKYVCN KISLLPNDED
SLPPLLVASG EKGSVPVVEE HPSHEQIILL LEGESFHPVT FVLNANLLVN VKFIFYSSDK
YWYFSTNGLH GLGQAEIIIL LLCLPNEDTI PKDIFRLFIT IYKDALKGKY IENLDNITFT
ESFLSSKDHG GFLFITPTFQ KLDDLSLPSN PFLCGILIQK LEIPWAKVFP MRLMLRLGAE
YKAYPAPLTS IRGRKPLFGE IGHTIMNLLV DLRNYQYTLH NIDQLLIHME MGKSCIKIPR
KKYSDVMKVL NSSNEHVISI GASFSTEADS HLVCIQNDGI YETQANSATG HPRKVTGASF
VVFNGALKTS SGFLAKSSIV EDGLMVQITP ETMNGLRLAL REQKDFKITC GKVDAVDLRE
YVDICWVDAE EKGNKGVISS VDGISLQGFP SEKIKLEADF ETDEKIVKCT EVFYFLKDQD
LSILSTSYQF AKEIAMACSA ALCPHLKTLK SNGMNKIGLR VSIDTDMVEF QAGSEGQLLP
QHYLNDLDSA LIPVIHGGTS NSSLPLEIEL VFFIIEHLF*
mutated AA sequence MDSYFKAAVS DLDKLLDDFE QNPDEQDYLQ DVQNAYDSNH CSVSSELASS QRTSLLPKDQ
ECVNSCASSE TSYGTNESSL NEKTLKGLTS IQNEKNVTGL DLLSSVDGGT SDEIQPLYMG
RCSKPICDLI SDMGNLVHAT NSEEDIKKLL PDDFKSNADS LIGLDLSSVS DTPCVSSTDH
DSDTVREQQN DTSSELQNRE IGGIKELGIK VDTTLSDSYN YSGTENLKDK KIFNQLESIV
DFNMSSALTR QSSKMFHAKD KLQHKSQPCG LLKDVGLVKE EVDVAVITAA ECLKEEGKTS
ALTCSLPKNE DLCLNDSNSR DENFKLPDFS FQEDKTVIKQ SAQEDSKSLD LKDNDVIQDS
SSALHVSSKD VPSSLSCLPA SGSMCGSLIE SKARGDFLPQ HEHKDNIQDA VTIHEEIQNS
VVLGGEPFKE NDLLKQEKCK SILLQSLIEG MEDRKIDPDQ TVIRAESLDG GDTSSTVVES
QEGLSGTHVP ESSDCCEGFI NTFSSNDMDG QDLDYFNIDE GAKSGPLISD AELDAFLTEQ
YLQTTNIKSF EENVNDSKSQ MNQIDMKGLD DGNINNIYFN AEAGAIGESH GINIICEIVD
KQNTIENGLS LGEKSTIPVQ QGLPTSKSEI TNQLSVSDIN SQSVGGARPK QLFSLPSRTR
SSKDLNKPDV PDTIESEPST ADTVVPITCA IDSTADPQVS FNSNYIDIES NSEGGSSFVT
ANEDSVPENT CKEGLVLGQK QPTWVPDSEA PNCMNCQVKF TFTKRRHHCR ACGKVFCGVC
CNRKCKLQYL EKEARVCVVC YETISKAQAF ERMMSPTGSN LKSNHSDECT TVQPPQENQT
SSIPSPATLP VSALKQPGVE GLCSKEQKRV WFADGILPNG EVADTTKLSS GSKRCSEDFS
PLSPDVPMTV NTVDHSHSTT VEKPNNETGD ITRNEIIQSP ISQVPSVEKL SMNTGNEGLP
TSGSFTLDDD VFAETEEPSS PTGVLVNSNL PIASISDYRL LCDINKYVCN KISLLPNDED
SLPPLLVASG EKGSVPVVEE HPSHEQIILL LEGESFHPVT FVLNANLLVN VKFIFYSSDK
YWYFSTNGLH GLGQAEIIIL LLCLPNEDTI PKDIFRLFIT IYKDALKGKY IENLDNITFT
ESFLSSKDHG GFLFITPTFQ KLDDLSLPSN PFLCGILIQK LEIPWAKVFP MRLMLRLGAE
YKAYPAPLTS IRGRKPLFGE IGHTIMNLLV DLRNYQYTLH NIDQLLIHME MGKSCIKIPR
KKYSDVMKVL NSSNEHVISI GASFSTEADS HLVCIQNDGI YETQANSATG HPRKVTGASF
VVFNGALKTS SGFLAKSSIV EDGLMVQITP ETMNGLRLAL REQKDFKITC GKVDAVDLRE
YVDICWVDAE EKGNKGVISS VDGISLQGFP SEKIKLEADF ETDEKIVKCT EVFYFLKDQD
LSILSTSYQF AKEIAMACSA ALCPHLKTLK SNGMNKIGLR VSIDTDMVEF QAGSEGQLLP
QHYLNDLDSA LIPVIHGGTS NSSLPLEIEL VFFIIEHLF*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999397 (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) chr5:79733079T>CN/A show variant in all transcripts   IGV
HGNC symbol ZFYVE16
Ensembl transcript ID ENST00000505560
Genbank transcript ID N/A
UniProt peptide Q7Z3T8
alteration type single base exchange
alteration region CDS
DNA changes c.575T>C
cDNA.796T>C
g.29248T>C
AA changes I192T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 192
frameshift no
known variant Reference ID: rs2544600
databasehomozygous (C/C)heterozygousallele carriers
1000G15517092260
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1010.015
-0.8340
(flanking)0.6880.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29253wt: 0.29 / mu: 0.46wt: TCAGTTCTGAATTAC
mu: CCAGTTCTGAATTAC		 AGTT|ctga
Donor increased29245wt: 0.26 / mu: 0.51wt: GAATGATATCAGTTC
mu: GAATGATACCAGTTC		 ATGA|tatc
Donor marginally increased29250wt: 0.5836 / mu: 0.6165 (marginal change - not scored)wt: ATATCAGTTCTGAAT
mu: ATACCAGTTCTGAAT		 ATCA|gttc
Donor increased29243wt: 0.22 / mu: 0.55wt: CAGAATGATATCAGT
mu: CAGAATGATACCAGT		 GAAT|gata
distance from splice site 505
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      192DSDTVREQQNDISSELQNREIGGI
mutated  not conserved    192DSDTVREQQNDTSSELQNREIGG
Ptroglodytes  all identical  ENSPTRG00000017038  192DSNTVREQQNDISSELQNREIGG
Mmulatta  not conserved  ENSMMUG00000023177  192DSDTVREPQNDTSSELQNREIGG
Fcatus  all conserved  ENSFCAG00000014689  163DNNTVREEQNDVHSELQNREISG
Mmusculus  all identical  ENSMUSG00000021706  189GSNAVREEQNNINAGIKNRDIS-
Ggallus  no alignment  ENSGALG00000023086  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000075747  179SEILKRDSEINCNS
Dmelanogaster  no alignment  FBgn0026369  n/a
Celegans  no alignment  D1022.7  n/a
Xtropicalis  no alignment  ENSXETG00000031551  n/a
protein features
start (aa)end (aa)featuredetails 
219219MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
221221MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
385385CONFLICTC -> S (in Ref. 3; CAD97666).might get lost (downstream of altered splice site)
446446MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
487487CONFLICTT -> A (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
616616CONFLICTT -> I (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
737739TURNmight get lost (downstream of altered splice site)
747749HELIXmight get lost (downstream of altered splice site)
747805ZN_FINGFYVE-type.might get lost (downstream of altered splice site)
753753MUTAGENC->S: Abolishes localization to endosomes and association with PI3P.might get lost (downstream of altered splice site)
754756TURNmight get lost (downstream of altered splice site)
762764STRANDmight get lost (downstream of altered splice site)
770772TURNmight get lost (downstream of altered splice site)
778780HELIXmight get lost (downstream of altered splice site)
783786STRANDmight get lost (downstream of altered splice site)
788790TURNmight get lost (downstream of altered splice site)
791796STRANDmight get lost (downstream of altered splice site)
798807HELIXmight get lost (downstream of altered splice site)
815815MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
845845MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
934934CONFLICTN -> D (in Ref. 3; CAD89968).might get lost (downstream of altered splice site)
939939MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
946946MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12091209MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12101210MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217CONFLICTL -> F (in Ref. 3; CAI45932).might get lost (downstream of altered splice site)
13081308CONFLICTA -> T (in Ref. 3; CAD97666).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4620 / 4620
position (AA) of stopcodon in wt / mu AA sequence 1540 / 1540
position of stopcodon in wt / mu cDNA 4841 / 4841
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 222 / 222
chromosome 5
strand 1
last intron/exon boundary 4683
theoretical NMD boundary in CDS 4411
length of CDS 4620
coding sequence (CDS) position 575
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 29248
chromosomal position
(for ins/del: last normal base / first normal base)		 79733079
original gDNA sequence snippet CAGAGAACAACAGAATGATATCAGTTCTGAATTACAAAATA
altered gDNA sequence snippet CAGAGAACAACAGAATGATACCAGTTCTGAATTACAAAATA
original cDNA sequence snippet CAGAGAACAACAGAATGATATCAGTTCTGAATTACAAAATA
altered cDNA sequence snippet CAGAGAACAACAGAATGATACCAGTTCTGAATTACAAAATA
wildtype AA sequence MDSYFKAAVS DLDKLLDDFE QNPDEQDYLQ DVQNAYDSNH CSVSSELASS QRTSLLPKDQ
ECVNSCASSE TSYGTNESSL NEKTLKGLTS IQNEKNVTGL DLLSSVDGGT SDEIQPLYMG
RCSKPICDLI SDMGNLVHAT NSEEDIKKLL PDDFKSNADS LIGLDLSSVS DTPCVSSTDH
DSDTVREQQN DISSELQNRE IGGIKELGIK VDTTLSDSYN YSGTENLKDK KIFNQLESIV
DFNMSSALTR QSSKMFHAKD KLQHKSQPCG LLKDVGLVKE EVDVAVITAA ECLKEEGKTS
ALTCSLPKNE DLCLNDSNSR DENFKLPDFS FQEDKTVIKQ SAQEDSKSLD LKDNDVIQDS
SSALHVSSKD VPSSLSCLPA SGSMCGSLIE SKARGDFLPQ HEHKDNIQDA VTIHEEIQNS
VVLGGEPFKE NDLLKQEKCK SILLQSLIEG MEDRKIDPDQ TVIRAESLDG GDTSSTVVES
QEGLSGTHVP ESSDCCEGFI NTFSSNDMDG QDLDYFNIDE GAKSGPLISD AELDAFLTEQ
YLQTTNIKSF EENVNDSKSQ MNQIDMKGLD DGNINNIYFN AEAGAIGESH GINIICEIVD
KQNTIENGLS LGEKSTIPVQ QGLPTSKSEI TNQLSVSDIN SQSVGGARPK QLFSLPSRTR
SSKDLNKPDV PDTIESEPST ADTVVPITCA IDSTADPQVS FNSNYIDIES NSEGGSSFVT
ANEDSVPENT CKEGLVLGQK QPTWVPDSEA PNCMNCQVKF TFTKRRHHCR ACGKVFCGVC
CNRKCKLQYL EKEARVCVVC YETISKAQAF ERMMSPTGSN LKSNHSDECT TVQPPQENQT
SSIPSPATLP VSALKQPGVE GLCSKEQKRV WFADGILPNG EVADTTKLSS GSKRCSEDFS
PLSPDVPMTV NTVDHSHSTT VEKPNNETGD ITRNEIIQSP ISQVPSVEKL SMNTGNEGLP
TSGSFTLDDD VFAETEEPSS PTGVLVNSNL PIASISDYRL LCDINKYVCN KISLLPNDED
SLPPLLVASG EKGSVPVVEE HPSHEQIILL LEGESFHPVT FVLNANLLVN VKFIFYSSDK
YWYFSTNGLH GLGQAEIIIL LLCLPNEDTI PKDIFRLFIT IYKDALKGKY IENLDNITFT
ESFLSSKDHG GFLFITPTFQ KLDDLSLPSN PFLCGILIQK LEIPWAKVFP MRLMLRLGAE
YKAYPAPLTS IRGRKPLFGE IGHTIMNLLV DLRNYQYTLH NIDQLLIHME MGKSCIKIPR
KKYSDVMKVL NSSNEHVISI GASFSTEADS HLVCIQNDGI YETQANSATG HPRKVTGASF
VVFNGALKTS SGFLAKSSIV EDGLMVQITP ETMNGLRLAL REQKDFKITC GKVDAVDLRE
YVDICWVDAE EKGNKGVISS VDGISLQGFP SEKIKLEADF ETDEKIVKCT EVFYFLKDQD
LSILSTSYQF AKEIAMACSA ALCPHLKTLK SNGMNKIGLR VSIDTDMVEF QAGSEGQLLP
QHYLNDLDSA LIPVIHGGTS NSSLPLEIEL VFFIIEHLF*
mutated AA sequence MDSYFKAAVS DLDKLLDDFE QNPDEQDYLQ DVQNAYDSNH CSVSSELASS QRTSLLPKDQ
ECVNSCASSE TSYGTNESSL NEKTLKGLTS IQNEKNVTGL DLLSSVDGGT SDEIQPLYMG
RCSKPICDLI SDMGNLVHAT NSEEDIKKLL PDDFKSNADS LIGLDLSSVS DTPCVSSTDH
DSDTVREQQN DTSSELQNRE IGGIKELGIK VDTTLSDSYN YSGTENLKDK KIFNQLESIV
DFNMSSALTR QSSKMFHAKD KLQHKSQPCG LLKDVGLVKE EVDVAVITAA ECLKEEGKTS
ALTCSLPKNE DLCLNDSNSR DENFKLPDFS FQEDKTVIKQ SAQEDSKSLD LKDNDVIQDS
SSALHVSSKD VPSSLSCLPA SGSMCGSLIE SKARGDFLPQ HEHKDNIQDA VTIHEEIQNS
VVLGGEPFKE NDLLKQEKCK SILLQSLIEG MEDRKIDPDQ TVIRAESLDG GDTSSTVVES
QEGLSGTHVP ESSDCCEGFI NTFSSNDMDG QDLDYFNIDE GAKSGPLISD AELDAFLTEQ
YLQTTNIKSF EENVNDSKSQ MNQIDMKGLD DGNINNIYFN AEAGAIGESH GINIICEIVD
KQNTIENGLS LGEKSTIPVQ QGLPTSKSEI TNQLSVSDIN SQSVGGARPK QLFSLPSRTR
SSKDLNKPDV PDTIESEPST ADTVVPITCA IDSTADPQVS FNSNYIDIES NSEGGSSFVT
ANEDSVPENT CKEGLVLGQK QPTWVPDSEA PNCMNCQVKF TFTKRRHHCR ACGKVFCGVC
CNRKCKLQYL EKEARVCVVC YETISKAQAF ERMMSPTGSN LKSNHSDECT TVQPPQENQT
SSIPSPATLP VSALKQPGVE GLCSKEQKRV WFADGILPNG EVADTTKLSS GSKRCSEDFS
PLSPDVPMTV NTVDHSHSTT VEKPNNETGD ITRNEIIQSP ISQVPSVEKL SMNTGNEGLP
TSGSFTLDDD VFAETEEPSS PTGVLVNSNL PIASISDYRL LCDINKYVCN KISLLPNDED
SLPPLLVASG EKGSVPVVEE HPSHEQIILL LEGESFHPVT FVLNANLLVN VKFIFYSSDK
YWYFSTNGLH GLGQAEIIIL LLCLPNEDTI PKDIFRLFIT IYKDALKGKY IENLDNITFT
ESFLSSKDHG GFLFITPTFQ KLDDLSLPSN PFLCGILIQK LEIPWAKVFP MRLMLRLGAE
YKAYPAPLTS IRGRKPLFGE IGHTIMNLLV DLRNYQYTLH NIDQLLIHME MGKSCIKIPR
KKYSDVMKVL NSSNEHVISI GASFSTEADS HLVCIQNDGI YETQANSATG HPRKVTGASF
VVFNGALKTS SGFLAKSSIV EDGLMVQITP ETMNGLRLAL REQKDFKITC GKVDAVDLRE
YVDICWVDAE EKGNKGVISS VDGISLQGFP SEKIKLEADF ETDEKIVKCT EVFYFLKDQD
LSILSTSYQF AKEIAMACSA ALCPHLKTLK SNGMNKIGLR VSIDTDMVEF QAGSEGQLLP
QHYLNDLDSA LIPVIHGGTS NSSLPLEIEL VFFIIEHLF*
speed 0.74 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

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