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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000409483
Querying Taster for transcript #2: ENST00000389413
Querying Taster for transcript #3: ENST00000389416
Querying Taster for transcript #4: ENST00000389418
Querying Taster for transcript #5: ENST00000404321
MT speed 0 s - this script 5.550262 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PTPRN2polymorphism_automatic5.49560397189452e-14simple_aaeaffectedS325Nsingle base exchangers1130499show file
PTPRN2polymorphism_automatic5.49560397189452e-14simple_aaeaffectedS308Nsingle base exchangers1130499show file
PTPRN2polymorphism_automatic5.49560397189452e-14simple_aaeaffectedS325Nsingle base exchangers1130499show file
PTPRN2polymorphism_automatic5.49560397189452e-14simple_aaeaffectedS348Nsingle base exchangers1130499show file
PTPRN2polymorphism_automatic1.15019105351166e-13simple_aaeaffectedS287Nsingle base exchangers1130499show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999945 (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) chr7:157931144C>TN/A show variant in all transcripts   IGV
HGNC symbol PTPRN2
Ensembl transcript ID ENST00000389413
Genbank transcript ID NM_130843
UniProt peptide Q92932
alteration type single base exchange
alteration region CDS
DNA changes c.974G>A
cDNA.1078G>A
g.449337G>A
AA changes S325N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 325
frameshift no
known variant Reference ID: rs1130499
databasehomozygous (T/T)heterozygousallele carriers
1000G36911411510
ExAC75371769325230
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1930
0.4140.007
(flanking)0.4850.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased449341wt: 0.28 / mu: 0.58wt: AGTGGCCTGGAGCTG
mu: AATGGCCTGGAGCTG		 TGGC|ctgg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      325LQRQPAEVRGLSGLELDGMAELMA
mutated  all conserved    325LQRQPAEVRGLNGLELDGMAELM
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007989  282--------------------EAM
Mmusculus  not conserved  ENSMUSG00000056553  318LQ-QNSEVDRLGPLK-EEKADSV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035970  316LGRQSVNVDTLTPKDLDKLSKVI
Dmelanogaster  no alignment  FBgn0031294  n/a
Celegans  no alignment  B0244.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22615TOPO_DOMExtracellular (Potential).lost
427428SITECleavage (Potential).might get lost (downstream of altered splice site)
564564CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
616636TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6371015TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
692692MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
725738HELIXmight get lost (downstream of altered splice site)
742754HELIXmight get lost (downstream of altered splice site)
7451005DOMAINTyrosine-protein phosphatase.might get lost (downstream of altered splice site)
763766TURNmight get lost (downstream of altered splice site)
768770TURNmight get lost (downstream of altered splice site)
771773HELIXmight get lost (downstream of altered splice site)
783785HELIXmight get lost (downstream of altered splice site)
791793TURNmight get lost (downstream of altered splice site)
795797STRANDmight get lost (downstream of altered splice site)
802806STRANDmight get lost (downstream of altered splice site)
811813STRANDmight get lost (downstream of altered splice site)
815819STRANDmight get lost (downstream of altered splice site)
824826HELIXmight get lost (downstream of altered splice site)
827836HELIXmight get lost (downstream of altered splice site)
841844STRANDmight get lost (downstream of altered splice site)
848850STRANDmight get lost (downstream of altered splice site)
862868STRANDmight get lost (downstream of altered splice site)
871882STRANDmight get lost (downstream of altered splice site)
885894STRANDmight get lost (downstream of altered splice site)
895898TURNmight get lost (downstream of altered splice site)
899908STRANDmight get lost (downstream of altered splice site)
913913BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
920934HELIXmight get lost (downstream of altered splice site)
941944STRANDmight get lost (downstream of altered splice site)
945945ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
945945MUTAGENC->S: Loss of activity.might get lost (downstream of altered splice site)
945951REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
946949STRANDmight get lost (downstream of altered splice site)
950966HELIXmight get lost (downstream of altered splice site)
970970MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
974982HELIXmight get lost (downstream of altered splice site)
977977MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
990990BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
9921010HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2961 / 2961
position (AA) of stopcodon in wt / mu AA sequence 987 / 987
position of stopcodon in wt / mu cDNA 3065 / 3065
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 105 / 105
chromosome 7
strand -1
last intron/exon boundary 2994
theoretical NMD boundary in CDS 2839
length of CDS 2961
coding sequence (CDS) position 974
cDNA position
(for ins/del: last normal base / first normal base)		 1078
gDNA position
(for ins/del: last normal base / first normal base)		 449337
chromosomal position
(for ins/del: last normal base / first normal base)		 157931144
original gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
original cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
wildtype AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLGCL LEEGLCGASE ACVNDGVFGR
CQKVPAMDFY RYEVSPVALQ RLRVALQKLS GTGFTWQDDY TQYVMDQELA DLPKTYLRRP
EASSPARPSK HSVGSERRYS REGGAALANA LRRHLPFLEA LSQAPASDVL ARTHTAQDRP
PAEGDDRFSE SILTYVAHTS ALTYPPGSRT QLREDLLPRT LGQLQPDELS PKVDSGVDRH
HLMAALSAYA AQRPPAPPGE GSLEPQYLLR APSRMPRPLL APAAPQKWPS PLGDSEDPSS
TGDGARIHTL LKDLQRQPAE VRGLSGLELD GMAELMAGLM QGVDHGVARG SPGRAALGES
GEQADGPKAT LRGDSFPDDG VQDDDDRLYQ EVHRLSATLG GLLQDHGSRL LPGALPFARP
LDMERKKSEH PESSLSSEEE TAGVENVKSQ TYSKDLLGQQ PHSEPGAAAF GELQNQMPGP
SKEEQSLPAG AQEALSDGLQ LEVQPSEEEA RGYIVTDREV LGPAVTFKVS ANVQNVTTED
VEKATVDNKD KLEETSGLKI LQTGVGSKSK LKFLPPQAEQ EDSTKFIALT LVSLACILGV
LLASGLIYCL RHSSQHRLKE KLSGLGGDPG ADATAAYQEL CRQRMATRPP DRPEGPHTSR
ISSVSSQFSD GPIPSPSARS SASSWSEEPV QSNMDISTGH MILSYMEDHL KNKNRLEKEW
EALCAYQAEP NSSFVAQREE NVPKNRSLAV LTYDHSRVLL KAENSHSHSD YINASPIMDH
DPRNPAYIAT QGPLPATVAD FWQMVWESGC VVIVMLTPLA ENGVRQCYHY WPDEGSNLYH
IYEVNLVSEH IWCEDFLVRS FYLKNLQTNE TRTVTQFHFL SWYDRGVPSS SRSLLDFRRK
VNKCYRGRSC PIIVHCSDGA GRSGTYVLID MVLNKMAKGA KEIDIAATLE HLRDQRPGMV
QTKEQFEFAL TAVAEEVNAI LKALPQ*
mutated AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLGCL LEEGLCGASE ACVNDGVFGR
CQKVPAMDFY RYEVSPVALQ RLRVALQKLS GTGFTWQDDY TQYVMDQELA DLPKTYLRRP
EASSPARPSK HSVGSERRYS REGGAALANA LRRHLPFLEA LSQAPASDVL ARTHTAQDRP
PAEGDDRFSE SILTYVAHTS ALTYPPGSRT QLREDLLPRT LGQLQPDELS PKVDSGVDRH
HLMAALSAYA AQRPPAPPGE GSLEPQYLLR APSRMPRPLL APAAPQKWPS PLGDSEDPSS
TGDGARIHTL LKDLQRQPAE VRGLNGLELD GMAELMAGLM QGVDHGVARG SPGRAALGES
GEQADGPKAT LRGDSFPDDG VQDDDDRLYQ EVHRLSATLG GLLQDHGSRL LPGALPFARP
LDMERKKSEH PESSLSSEEE TAGVENVKSQ TYSKDLLGQQ PHSEPGAAAF GELQNQMPGP
SKEEQSLPAG AQEALSDGLQ LEVQPSEEEA RGYIVTDREV LGPAVTFKVS ANVQNVTTED
VEKATVDNKD KLEETSGLKI LQTGVGSKSK LKFLPPQAEQ EDSTKFIALT LVSLACILGV
LLASGLIYCL RHSSQHRLKE KLSGLGGDPG ADATAAYQEL CRQRMATRPP DRPEGPHTSR
ISSVSSQFSD GPIPSPSARS SASSWSEEPV QSNMDISTGH MILSYMEDHL KNKNRLEKEW
EALCAYQAEP NSSFVAQREE NVPKNRSLAV LTYDHSRVLL KAENSHSHSD YINASPIMDH
DPRNPAYIAT QGPLPATVAD FWQMVWESGC VVIVMLTPLA ENGVRQCYHY WPDEGSNLYH
IYEVNLVSEH IWCEDFLVRS FYLKNLQTNE TRTVTQFHFL SWYDRGVPSS SRSLLDFRRK
VNKCYRGRSC PIIVHCSDGA GRSGTYVLID MVLNKMAKGA KEIDIAATLE HLRDQRPGMV
QTKEQFEFAL TAVAEEVNAI LKALPQ*
speed 1.04 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: 0.999999999999945 (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) chr7:157931144C>TN/A show variant in all transcripts   IGV
HGNC symbol PTPRN2
Ensembl transcript ID ENST00000389416
Genbank transcript ID NM_130842
UniProt peptide Q92932
alteration type single base exchange
alteration region CDS
DNA changes c.923G>A
cDNA.965G>A
g.449337G>A
AA changes S308N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 308
frameshift no
known variant Reference ID: rs1130499
databasehomozygous (T/T)heterozygousallele carriers
1000G36911411510
ExAC75371769325230
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1930
0.4140.007
(flanking)0.4850.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased449341wt: 0.28 / mu: 0.58wt: AGTGGCCTGGAGCTG
mu: AATGGCCTGGAGCTG		 TGGC|ctgg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      308LQRQPAEVRGLSGLELDGMAELMA
mutated  all conserved    308PAEVRGLNGLELDGMAELM
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007989  282--------------------
Mmusculus  not conserved  ENSMUSG00000056553  318LQ-QNSEVDRLGPLK-EEKADSV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035970  314LGRQSVNVDTLTPKDLDKLSKVI
Dmelanogaster  no alignment  FBgn0031294  n/a
Celegans  no alignment  B0244.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22615TOPO_DOMExtracellular (Potential).lost
323323CONFLICTG -> R (in Ref. 2; CAA69880).might get lost (downstream of altered splice site)
427428SITECleavage (Potential).might get lost (downstream of altered splice site)
564564CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
616636TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6371015TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
692692MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
725738HELIXmight get lost (downstream of altered splice site)
742754HELIXmight get lost (downstream of altered splice site)
7451005DOMAINTyrosine-protein phosphatase.might get lost (downstream of altered splice site)
763766TURNmight get lost (downstream of altered splice site)
768770TURNmight get lost (downstream of altered splice site)
771773HELIXmight get lost (downstream of altered splice site)
783785HELIXmight get lost (downstream of altered splice site)
791793TURNmight get lost (downstream of altered splice site)
795797STRANDmight get lost (downstream of altered splice site)
802806STRANDmight get lost (downstream of altered splice site)
811813STRANDmight get lost (downstream of altered splice site)
815819STRANDmight get lost (downstream of altered splice site)
824826HELIXmight get lost (downstream of altered splice site)
827836HELIXmight get lost (downstream of altered splice site)
841844STRANDmight get lost (downstream of altered splice site)
848850STRANDmight get lost (downstream of altered splice site)
862868STRANDmight get lost (downstream of altered splice site)
871882STRANDmight get lost (downstream of altered splice site)
885894STRANDmight get lost (downstream of altered splice site)
895898TURNmight get lost (downstream of altered splice site)
899908STRANDmight get lost (downstream of altered splice site)
913913BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
920934HELIXmight get lost (downstream of altered splice site)
941944STRANDmight get lost (downstream of altered splice site)
945945ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
945945MUTAGENC->S: Loss of activity.might get lost (downstream of altered splice site)
945951REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
946949STRANDmight get lost (downstream of altered splice site)
950966HELIXmight get lost (downstream of altered splice site)
970970MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
974982HELIXmight get lost (downstream of altered splice site)
977977MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
990990BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
9921010HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2997 / 2997
position (AA) of stopcodon in wt / mu AA sequence 999 / 999
position of stopcodon in wt / mu cDNA 3039 / 3039
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 43 / 43
chromosome 7
strand -1
last intron/exon boundary 2968
theoretical NMD boundary in CDS 2875
length of CDS 2997
coding sequence (CDS) position 923
cDNA position
(for ins/del: last normal base / first normal base)		 965
gDNA position
(for ins/del: last normal base / first normal base)		 449337
chromosomal position
(for ins/del: last normal base / first normal base)		 157931144
original gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
original cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
wildtype AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLDGV FGRCQKVPAM DFYRYEVSPV
ALQRLRVALQ KLSGTGFTWQ DDYTQYVMDQ ELADLPKTYL RRPEASSPAR PSKHSVGSER
RYSREGGAAL ANALRRHLPF LEALSQAPAS DVLARTHTAQ DRPPAEGDDR FSESILTYVA
HTSALTYPPG SRTQLREDLL PRTLGQLQPD ELSPKVDSGV DRHHLMAALS AYAAQRPPAP
PGEGSLEPQY LLRAPSRMPR PLLAPAAPQK WPSPLGDSED PSSTGDGARI HTLLKDLQRQ
PAEVRGLSGL ELDGMAELMA GLMQGVDHGV ARGSPGRAAL GESGEQADGP KATLRGDSFP
DDGVQDDDDR LYQEVHRLSA TLGGLLQDHG SRLLPGALPF ARPLDMERKK SEHPESSLSS
EEETAGVENV KSQTYSKDLL GQQPHSEPGA AAFGELQNQM PGPSKEEQSL PAGAQEALSD
GLQLEVQPSE EEARGYIVTD RDPLRPEEGR RLVEDVARLL QVPSSAFADV EVLGPAVTFK
VSANVQNVTT EDVEKATVDN KDKLEETSGL KILQTGVGSK SKLKFLPPQA EQEDSTKFIA
LTLVSLACIL GVLLASGLIY CLRHSSQHRL KEKLSGLGGD PGADATAAYQ ELCRQRMATR
PPDRPEGPHT SRISSVSSQF SDGPIPSPSA RSSASSWSEE PVQSNMDIST GHMILSYMED
HLKNKNRLEK EWEALCAYQA EPNSSFVAQR EENVPKNRSL AVLTYDHSRV LLKAENSHSH
SDYINASPIM DHDPRNPAYI ATQGPLPATV ADFWQMVWES GCVVIVMLTP LAENGVRQCY
HYWPDEGSNL YHIYEVNLVS EHIWCEDFLV RSFYLKNLQT NETRTVTQFH FLSWYDRGVP
SSSRSLLDFR RKVNKCYRGR SCPIIVHCSD GAGRSGTYVL IDMVLNKMAK GAKEIDIAAT
LEHLRDQRPG MVQTKEQFEF ALTAVAEEVN AILKALPQ*
mutated AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLDGV FGRCQKVPAM DFYRYEVSPV
ALQRLRVALQ KLSGTGFTWQ DDYTQYVMDQ ELADLPKTYL RRPEASSPAR PSKHSVGSER
RYSREGGAAL ANALRRHLPF LEALSQAPAS DVLARTHTAQ DRPPAEGDDR FSESILTYVA
HTSALTYPPG SRTQLREDLL PRTLGQLQPD ELSPKVDSGV DRHHLMAALS AYAAQRPPAP
PGEGSLEPQY LLRAPSRMPR PLLAPAAPQK WPSPLGDSED PSSTGDGARI HTLLKDLQRQ
PAEVRGLNGL ELDGMAELMA GLMQGVDHGV ARGSPGRAAL GESGEQADGP KATLRGDSFP
DDGVQDDDDR LYQEVHRLSA TLGGLLQDHG SRLLPGALPF ARPLDMERKK SEHPESSLSS
EEETAGVENV KSQTYSKDLL GQQPHSEPGA AAFGELQNQM PGPSKEEQSL PAGAQEALSD
GLQLEVQPSE EEARGYIVTD RDPLRPEEGR RLVEDVARLL QVPSSAFADV EVLGPAVTFK
VSANVQNVTT EDVEKATVDN KDKLEETSGL KILQTGVGSK SKLKFLPPQA EQEDSTKFIA
LTLVSLACIL GVLLASGLIY CLRHSSQHRL KEKLSGLGGD PGADATAAYQ ELCRQRMATR
PPDRPEGPHT SRISSVSSQF SDGPIPSPSA RSSASSWSEE PVQSNMDIST GHMILSYMED
HLKNKNRLEK EWEALCAYQA EPNSSFVAQR EENVPKNRSL AVLTYDHSRV LLKAENSHSH
SDYINASPIM DHDPRNPAYI ATQGPLPATV ADFWQMVWES GCVVIVMLTP LAENGVRQCY
HYWPDEGSNL YHIYEVNLVS EHIWCEDFLV RSFYLKNLQT NETRTVTQFH FLSWYDRGVP
SSSRSLLDFR RKVNKCYRGR SCPIIVHCSD GAGRSGTYVL IDMVLNKMAK GAKEIDIAAT
LEHLRDQRPG MVQTKEQFEF ALTAVAEEVN AILKALPQ*
speed 0.95 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999945 (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) chr7:157931144C>TN/A show variant in all transcripts   IGV
HGNC symbol PTPRN2
Ensembl transcript ID ENST00000389418
Genbank transcript ID NM_002847
UniProt peptide Q92932
alteration type single base exchange
alteration region CDS
DNA changes c.974G>A
cDNA.984G>A
g.449337G>A
AA changes S325N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 325
frameshift no
known variant Reference ID: rs1130499
databasehomozygous (T/T)heterozygousallele carriers
1000G36911411510
ExAC75371769325230
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1930
0.4140.007
(flanking)0.4850.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased449341wt: 0.28 / mu: 0.58wt: AGTGGCCTGGAGCTG
mu: AATGGCCTGGAGCTG		 TGGC|ctgg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      325LQRQPAEVRGLSGLELDGMAELMA
mutated  all conserved    325LQRQPAEVRGLNGLELDGMAELM
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007989  282--------------------EAM
Mmusculus  not conserved  ENSMUSG00000056553  318LQ-QNSEVDRLGPLK-EEKADSV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035970  314LGRQSVNVDTLTPKDLDKLSKVI
Dmelanogaster  no alignment  FBgn0031294  n/a
Celegans  no alignment  B0244.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22615TOPO_DOMExtracellular (Potential).lost
427428SITECleavage (Potential).might get lost (downstream of altered splice site)
564564CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
616636TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6371015TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
692692MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
725738HELIXmight get lost (downstream of altered splice site)
742754HELIXmight get lost (downstream of altered splice site)
7451005DOMAINTyrosine-protein phosphatase.might get lost (downstream of altered splice site)
763766TURNmight get lost (downstream of altered splice site)
768770TURNmight get lost (downstream of altered splice site)
771773HELIXmight get lost (downstream of altered splice site)
783785HELIXmight get lost (downstream of altered splice site)
791793TURNmight get lost (downstream of altered splice site)
795797STRANDmight get lost (downstream of altered splice site)
802806STRANDmight get lost (downstream of altered splice site)
811813STRANDmight get lost (downstream of altered splice site)
815819STRANDmight get lost (downstream of altered splice site)
824826HELIXmight get lost (downstream of altered splice site)
827836HELIXmight get lost (downstream of altered splice site)
841844STRANDmight get lost (downstream of altered splice site)
848850STRANDmight get lost (downstream of altered splice site)
862868STRANDmight get lost (downstream of altered splice site)
871882STRANDmight get lost (downstream of altered splice site)
885894STRANDmight get lost (downstream of altered splice site)
895898TURNmight get lost (downstream of altered splice site)
899908STRANDmight get lost (downstream of altered splice site)
913913BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
920934HELIXmight get lost (downstream of altered splice site)
941944STRANDmight get lost (downstream of altered splice site)
945945ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
945945MUTAGENC->S: Loss of activity.might get lost (downstream of altered splice site)
945951REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
946949STRANDmight get lost (downstream of altered splice site)
950966HELIXmight get lost (downstream of altered splice site)
970970MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
974982HELIXmight get lost (downstream of altered splice site)
977977MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
990990BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
9921010HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3048 / 3048
position (AA) of stopcodon in wt / mu AA sequence 1016 / 1016
position of stopcodon in wt / mu cDNA 3058 / 3058
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 11 / 11
chromosome 7
strand -1
last intron/exon boundary 2987
theoretical NMD boundary in CDS 2926
length of CDS 3048
coding sequence (CDS) position 974
cDNA position
(for ins/del: last normal base / first normal base)		 984
gDNA position
(for ins/del: last normal base / first normal base)		 449337
chromosomal position
(for ins/del: last normal base / first normal base)		 157931144
original gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
original cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
wildtype AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLGCL LEEGLCGASE ACVNDGVFGR
CQKVPAMDFY RYEVSPVALQ RLRVALQKLS GTGFTWQDDY TQYVMDQELA DLPKTYLRRP
EASSPARPSK HSVGSERRYS REGGAALANA LRRHLPFLEA LSQAPASDVL ARTHTAQDRP
PAEGDDRFSE SILTYVAHTS ALTYPPGSRT QLREDLLPRT LGQLQPDELS PKVDSGVDRH
HLMAALSAYA AQRPPAPPGE GSLEPQYLLR APSRMPRPLL APAAPQKWPS PLGDSEDPSS
TGDGARIHTL LKDLQRQPAE VRGLSGLELD GMAELMAGLM QGVDHGVARG SPGRAALGES
GEQADGPKAT LRGDSFPDDG VQDDDDRLYQ EVHRLSATLG GLLQDHGSRL LPGALPFARP
LDMERKKSEH PESSLSSEEE TAGVENVKSQ TYSKDLLGQQ PHSEPGAAAF GELQNQMPGP
SKEEQSLPAG AQEALSDGLQ LEVQPSEEEA RGYIVTDRDP LRPEEGRRLV EDVARLLQVP
SSAFADVEVL GPAVTFKVSA NVQNVTTEDV EKATVDNKDK LEETSGLKIL QTGVGSKSKL
KFLPPQAEQE DSTKFIALTL VSLACILGVL LASGLIYCLR HSSQHRLKEK LSGLGGDPGA
DATAAYQELC RQRMATRPPD RPEGPHTSRI SSVSSQFSDG PIPSPSARSS ASSWSEEPVQ
SNMDISTGHM ILSYMEDHLK NKNRLEKEWE ALCAYQAEPN SSFVAQREEN VPKNRSLAVL
TYDHSRVLLK AENSHSHSDY INASPIMDHD PRNPAYIATQ GPLPATVADF WQMVWESGCV
VIVMLTPLAE NGVRQCYHYW PDEGSNLYHI YEVNLVSEHI WCEDFLVRSF YLKNLQTNET
RTVTQFHFLS WYDRGVPSSS RSLLDFRRKV NKCYRGRSCP IIVHCSDGAG RSGTYVLIDM
VLNKMAKGAK EIDIAATLEH LRDQRPGMVQ TKEQFEFALT AVAEEVNAIL KALPQ*
mutated AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLGCL LEEGLCGASE ACVNDGVFGR
CQKVPAMDFY RYEVSPVALQ RLRVALQKLS GTGFTWQDDY TQYVMDQELA DLPKTYLRRP
EASSPARPSK HSVGSERRYS REGGAALANA LRRHLPFLEA LSQAPASDVL ARTHTAQDRP
PAEGDDRFSE SILTYVAHTS ALTYPPGSRT QLREDLLPRT LGQLQPDELS PKVDSGVDRH
HLMAALSAYA AQRPPAPPGE GSLEPQYLLR APSRMPRPLL APAAPQKWPS PLGDSEDPSS
TGDGARIHTL LKDLQRQPAE VRGLNGLELD GMAELMAGLM QGVDHGVARG SPGRAALGES
GEQADGPKAT LRGDSFPDDG VQDDDDRLYQ EVHRLSATLG GLLQDHGSRL LPGALPFARP
LDMERKKSEH PESSLSSEEE TAGVENVKSQ TYSKDLLGQQ PHSEPGAAAF GELQNQMPGP
SKEEQSLPAG AQEALSDGLQ LEVQPSEEEA RGYIVTDRDP LRPEEGRRLV EDVARLLQVP
SSAFADVEVL GPAVTFKVSA NVQNVTTEDV EKATVDNKDK LEETSGLKIL QTGVGSKSKL
KFLPPQAEQE DSTKFIALTL VSLACILGVL LASGLIYCLR HSSQHRLKEK LSGLGGDPGA
DATAAYQELC RQRMATRPPD RPEGPHTSRI SSVSSQFSDG PIPSPSARSS ASSWSEEPVQ
SNMDISTGHM ILSYMEDHLK NKNRLEKEWE ALCAYQAEPN SSFVAQREEN VPKNRSLAVL
TYDHSRVLLK AENSHSHSDY INASPIMDHD PRNPAYIATQ GPLPATVADF WQMVWESGCV
VIVMLTPLAE NGVRQCYHYW PDEGSNLYHI YEVNLVSEHI WCEDFLVRSF YLKNLQTNET
RTVTQFHFLS WYDRGVPSSS RSLLDFRRKV NKCYRGRSCP IIVHCSDGAG RSGTYVLIDM
VLNKMAKGAK EIDIAATLEH LRDQRPGMVQ TKEQFEFALT AVAEEVNAIL KALPQ*
speed 1.37 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: 0.999999999999945 (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) chr7:157931144C>TN/A show variant in all transcripts   IGV
HGNC symbol PTPRN2
Ensembl transcript ID ENST00000404321
Genbank transcript ID N/A
UniProt peptide Q92932
alteration type single base exchange
alteration region CDS
DNA changes c.1043G>A
cDNA.1043G>A
g.449337G>A
AA changes S348N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 348
frameshift no
known variant Reference ID: rs1130499
databasehomozygous (T/T)heterozygousallele carriers
1000G36911411510
ExAC75371769325230
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1930
0.4140.007
(flanking)0.4850.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased449341wt: 0.28 / mu: 0.58wt: AGTGGCCTGGAGCTG
mu: AATGGCCTGGAGCTG		 TGGC|ctgg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      348LQRQPAEVRGLSGLELDGMAELMA
mutated  all conserved    348LQRQPAEVRGLNGLELDGMAELM
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007989  282--------------------EAM
Mmusculus  not conserved  ENSMUSG00000056553  318LQ-QNSEVDRLGPLK-EEKADSV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035970  314LGRQSVNVDTLTPK
Dmelanogaster  no alignment  FBgn0031294  n/a
Celegans  no alignment  B0244.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22615TOPO_DOMExtracellular (Potential).lost
427428SITECleavage (Potential).might get lost (downstream of altered splice site)
564564CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
616636TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6371015TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
692692MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
725738HELIXmight get lost (downstream of altered splice site)
742754HELIXmight get lost (downstream of altered splice site)
7451005DOMAINTyrosine-protein phosphatase.might get lost (downstream of altered splice site)
763766TURNmight get lost (downstream of altered splice site)
768770TURNmight get lost (downstream of altered splice site)
771773HELIXmight get lost (downstream of altered splice site)
783785HELIXmight get lost (downstream of altered splice site)
791793TURNmight get lost (downstream of altered splice site)
795797STRANDmight get lost (downstream of altered splice site)
802806STRANDmight get lost (downstream of altered splice site)
811813STRANDmight get lost (downstream of altered splice site)
815819STRANDmight get lost (downstream of altered splice site)
824826HELIXmight get lost (downstream of altered splice site)
827836HELIXmight get lost (downstream of altered splice site)
841844STRANDmight get lost (downstream of altered splice site)
848850STRANDmight get lost (downstream of altered splice site)
862868STRANDmight get lost (downstream of altered splice site)
871882STRANDmight get lost (downstream of altered splice site)
885894STRANDmight get lost (downstream of altered splice site)
895898TURNmight get lost (downstream of altered splice site)
899908STRANDmight get lost (downstream of altered splice site)
913913BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
920934HELIXmight get lost (downstream of altered splice site)
941944STRANDmight get lost (downstream of altered splice site)
945945ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
945945MUTAGENC->S: Loss of activity.might get lost (downstream of altered splice site)
945951REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
946949STRANDmight get lost (downstream of altered splice site)
950966HELIXmight get lost (downstream of altered splice site)
970970MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
974982HELIXmight get lost (downstream of altered splice site)
977977MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
990990BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
9921010HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3117 / 3117
position (AA) of stopcodon in wt / mu AA sequence 1039 / 1039
position of stopcodon in wt / mu cDNA 3117 / 3117
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 7
strand -1
last intron/exon boundary 3046
theoretical NMD boundary in CDS 2995
length of CDS 3117
coding sequence (CDS) position 1043
cDNA position
(for ins/del: last normal base / first normal base)		 1043
gDNA position
(for ins/del: last normal base / first normal base)		 449337
chromosomal position
(for ins/del: last normal base / first normal base)		 157931144
original gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
original cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
wildtype AA sequence MAVESEYSLL RTEASFPTMK MFCVSHTLPR VEVMFVSGPQ TRERTEPVDP RWQCLVQMWA
GCLLEEGLCG ASEACVNDGV FGRCQKVPAM DFYRYEVSPV ALQRLRVALQ KLSGTGFTWQ
DDYTQYVMDQ ELADLPKTYL RRPEASSPAR PSKHSVGSER RYSREGGAAL ANALRRHLPF
LEALSQAPAS DVLARTHTAQ DRPPAEGDDR FSESILTYVA HTSALTYPPG SRTQLREDLL
PRTLGQLQPD ELSPKVDSGV DRHHLMAALS AYAAQRPPAP PGEGSLEPQY LLRAPSRMPR
PLLAPAAPQK WPSPLGDSED PSSTGDGARI HTLLKDLQRQ PAEVRGLSGL ELDGMAELMA
GLMQGVDHGV ARGSPGRAAL GESGEQADGP KATLRGDSFP DDGVQDDDDR LYQEVHRLSA
TLGGLLQDHG SRLLPGALPF ARPLDMERKK SEHPESSLSS EEETAGVENV KSQTYSKDLL
GQQPHSEPGA AAFGELQNQM PGPSKEEQSL PAGAQEALSD GLQLEVQPSE EEARGYIVTD
RDPLRPEEGR RLVEDVARLL QVPSSAFADV EVLGPAVTFK VSANVQNVTT EDVEKATVDN
KDKLEETSGL KILQTGVGSK SKLKFLPPQA EQEDSTKFIA LTLVSLACIL GVLLASGLIY
CLRHSSQHRL KEKLSGLGGD PGADATAAYQ ELCRQRMATR PPDRPEGPHT SRISSVSSQF
SDGPIPSPSA RSSASSWSEE PVQSNMDIST GHMILSYMED HLKNKNRLEK EWEALCAYQA
EPNSSFVAQR EENVPKNRSL AVLTYDHSRV LLKAENSHSH SDYINASPIM DHDPRNPAYI
ATQGPLPATV ADFWQMVWES GCVVIVMLTP LAENGVRQCY HYWPDEGSNL YHIYEVNLVS
EHIWCEDFLV RSFYLKNLQT NETRTVTQFH FLSWYDRGVP SSSRSLLDFR RKVNKCYRGR
SCPIIVHCSD GAGRSGTYVL IDMVLNKMAK GAKEIDIAAT LEHLRDQRPG MVQTKEQFEF
ALTAVAEEVN AILKALPQ*
mutated AA sequence MAVESEYSLL RTEASFPTMK MFCVSHTLPR VEVMFVSGPQ TRERTEPVDP RWQCLVQMWA
GCLLEEGLCG ASEACVNDGV FGRCQKVPAM DFYRYEVSPV ALQRLRVALQ KLSGTGFTWQ
DDYTQYVMDQ ELADLPKTYL RRPEASSPAR PSKHSVGSER RYSREGGAAL ANALRRHLPF
LEALSQAPAS DVLARTHTAQ DRPPAEGDDR FSESILTYVA HTSALTYPPG SRTQLREDLL
PRTLGQLQPD ELSPKVDSGV DRHHLMAALS AYAAQRPPAP PGEGSLEPQY LLRAPSRMPR
PLLAPAAPQK WPSPLGDSED PSSTGDGARI HTLLKDLQRQ PAEVRGLNGL ELDGMAELMA
GLMQGVDHGV ARGSPGRAAL GESGEQADGP KATLRGDSFP DDGVQDDDDR LYQEVHRLSA
TLGGLLQDHG SRLLPGALPF ARPLDMERKK SEHPESSLSS EEETAGVENV KSQTYSKDLL
GQQPHSEPGA AAFGELQNQM PGPSKEEQSL PAGAQEALSD GLQLEVQPSE EEARGYIVTD
RDPLRPEEGR RLVEDVARLL QVPSSAFADV EVLGPAVTFK VSANVQNVTT EDVEKATVDN
KDKLEETSGL KILQTGVGSK SKLKFLPPQA EQEDSTKFIA LTLVSLACIL GVLLASGLIY
CLRHSSQHRL KEKLSGLGGD PGADATAAYQ ELCRQRMATR PPDRPEGPHT SRISSVSSQF
SDGPIPSPSA RSSASSWSEE PVQSNMDIST GHMILSYMED HLKNKNRLEK EWEALCAYQA
EPNSSFVAQR EENVPKNRSL AVLTYDHSRV LLKAENSHSH SDYINASPIM DHDPRNPAYI
ATQGPLPATV ADFWQMVWES GCVVIVMLTP LAENGVRQCY HYWPDEGSNL YHIYEVNLVS
EHIWCEDFLV RSFYLKNLQT NETRTVTQFH FLSWYDRGVP SSSRSLLDFR RKVNKCYRGR
SCPIIVHCSD GAGRSGTYVL IDMVLNKMAK GAKEIDIAAT LEHLRDQRPG MVQTKEQFEF
ALTAVAEEVN AILKALPQ*
speed 0.94 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: 0.999999999999885 (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) chr7:157931144C>TN/A show variant in all transcripts   IGV
HGNC symbol PTPRN2
Ensembl transcript ID ENST00000409483
Genbank transcript ID N/A
UniProt peptide Q92932
alteration type single base exchange
alteration region CDS
DNA changes c.860G>A
cDNA.979G>A
g.449337G>A
AA changes S287N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 287
frameshift no
known variant Reference ID: rs1130499
databasehomozygous (T/T)heterozygousallele carriers
1000G36911411510
ExAC75371769325230
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1930
0.4140.007
(flanking)0.4850.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased449341wt: 0.28 / mu: 0.58wt: AGTGGCCTGGAGCTG
mu: AATGGCCTGGAGCTG		 TGGC|ctgg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      287LQRQPAEVRGLSGLELDGMAELMA
mutated  all conserved    287LQRQPAEVRGLNGLELDGMAELM
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007989  282--------------------EAM
Mmusculus  not conserved  ENSMUSG00000056553  318LQ-QNSEVDRLGPLK-EEKADSV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035970  314LGRQSVNVDTLTPKDLDKLSKVI
Dmelanogaster  not conserved  FBgn0031294  346LRHDPSELEHFGKMDGHGQS
Celegans  no alignment  B0244.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22615TOPO_DOMExtracellular (Potential).lost
323323CONFLICTG -> R (in Ref. 2; CAA69880).might get lost (downstream of altered splice site)
427428SITECleavage (Potential).might get lost (downstream of altered splice site)
564564CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
616636TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6371015TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
692692MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
725738HELIXmight get lost (downstream of altered splice site)
742754HELIXmight get lost (downstream of altered splice site)
7451005DOMAINTyrosine-protein phosphatase.might get lost (downstream of altered splice site)
763766TURNmight get lost (downstream of altered splice site)
768770TURNmight get lost (downstream of altered splice site)
771773HELIXmight get lost (downstream of altered splice site)
783785HELIXmight get lost (downstream of altered splice site)
791793TURNmight get lost (downstream of altered splice site)
795797STRANDmight get lost (downstream of altered splice site)
802806STRANDmight get lost (downstream of altered splice site)
811813STRANDmight get lost (downstream of altered splice site)
815819STRANDmight get lost (downstream of altered splice site)
824826HELIXmight get lost (downstream of altered splice site)
827836HELIXmight get lost (downstream of altered splice site)
841844STRANDmight get lost (downstream of altered splice site)
848850STRANDmight get lost (downstream of altered splice site)
862868STRANDmight get lost (downstream of altered splice site)
871882STRANDmight get lost (downstream of altered splice site)
885894STRANDmight get lost (downstream of altered splice site)
895898TURNmight get lost (downstream of altered splice site)
899908STRANDmight get lost (downstream of altered splice site)
913913BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
920934HELIXmight get lost (downstream of altered splice site)
941944STRANDmight get lost (downstream of altered splice site)
945945ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
945945MUTAGENC->S: Loss of activity.might get lost (downstream of altered splice site)
945951REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
946949STRANDmight get lost (downstream of altered splice site)
950966HELIXmight get lost (downstream of altered splice site)
970970MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
974982HELIXmight get lost (downstream of altered splice site)
977977MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
990990BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
9921010HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2934 / 2934
position (AA) of stopcodon in wt / mu AA sequence 978 / 978
position of stopcodon in wt / mu cDNA 3053 / 3053
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 120 / 120
chromosome 7
strand -1
last intron/exon boundary 2982
theoretical NMD boundary in CDS 2812
length of CDS 2934
coding sequence (CDS) position 860
cDNA position
(for ins/del: last normal base / first normal base)		 979
gDNA position
(for ins/del: last normal base / first normal base)		 449337
chromosomal position
(for ins/del: last normal base / first normal base)		 157931144
original gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered gDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
original cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAGTGGCCTGGAGCTGGACGGCA
altered cDNA sequence snippet GGCTGAGGTGAGGGGCCTGAATGGCCTGGAGCTGGACGGCA
wildtype AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLGCL LEEGLCGASE ACVNGFTWQD
DYTQYVMDQE LADLPKTYLR RPEASSPARP SKHSVGSERR YSREGGAALA NALRRHLPFL
EALSQAPASD VLARTHTAQD RPPAEGDDRF SESILTYVAH TSALTYPPGS RTQLREDLLP
RTLGQLQPDE LSPKVDSGVD RHHLMAALSA YAAQRPPAPP GEGSLEPQYL LRAPSRMPRP
LLAPAAPQKW PSPLGDSEDP SSTGDGARIH TLLKDLQRQP AEVRGLSGLE LDGMAELMAG
LMQGVDHGVA RGSPGRAALG ESGEQADGPK ATLRGDSFPD DGVQDDDDRL YQEVHRLSAT
LGGLLQDHGS RLLPGALPFA RPLDMERKKS EHPESSLSSE EETAGVENVK SQTYSKDLLG
QQPHSEPGAA AFGELQNQMP GPSKEEQSLP AGAQEALSDG LQLEVQPSEE EARGYIVTDR
DPLRPEEGRR LVEDVARLLQ VPSSAFADVE VLGPAVTFKV SANVQNVTTE DVEKATVDNK
DKLEETSGLK ILQTGVGSKS KLKFLPPQAE QEDSTKFIAL TLVSLACILG VLLASGLIYC
LRHSSQHRLK EKLSGLGGDP GADATAAYQE LCRQRMATRP PDRPEGPHTS RISSVSSQFS
DGPIPSPSAR SSASSWSEEP VQSNMDISTG HMILSYMEDH LKNKNRLEKE WEALCAYQAE
PNSSFVAQRE ENVPKNRSLA VLTYDHSRVL LKAENSHSHS DYINASPIMD HDPRNPAYIA
TQGPLPATVA DFWQMVWESG CVVIVMLTPL AENGVRQCYH YWPDEGSNLY HIYEVNLVSE
HIWCEDFLVR SFYLKNLQTN ETRTVTQFHF LSWYDRGVPS SSRSLLDFRR KVNKCYRGRS
CPIIVHCSDG AGRSGTYVLI DMVLNKMAKG AKEIDIAATL EHLRDQRPGM VQTKEQFEFA
LTAVAEEVNA ILKALPQ*
mutated AA sequence MGPPLPLLLL LLLLLPPRVL PAAPSSVPRG RQLPGRLGCL LEEGLCGASE ACVNGFTWQD
DYTQYVMDQE LADLPKTYLR RPEASSPARP SKHSVGSERR YSREGGAALA NALRRHLPFL
EALSQAPASD VLARTHTAQD RPPAEGDDRF SESILTYVAH TSALTYPPGS RTQLREDLLP
RTLGQLQPDE LSPKVDSGVD RHHLMAALSA YAAQRPPAPP GEGSLEPQYL LRAPSRMPRP
LLAPAAPQKW PSPLGDSEDP SSTGDGARIH TLLKDLQRQP AEVRGLNGLE LDGMAELMAG
LMQGVDHGVA RGSPGRAALG ESGEQADGPK ATLRGDSFPD DGVQDDDDRL YQEVHRLSAT
LGGLLQDHGS RLLPGALPFA RPLDMERKKS EHPESSLSSE EETAGVENVK SQTYSKDLLG
QQPHSEPGAA AFGELQNQMP GPSKEEQSLP AGAQEALSDG LQLEVQPSEE EARGYIVTDR
DPLRPEEGRR LVEDVARLLQ VPSSAFADVE VLGPAVTFKV SANVQNVTTE DVEKATVDNK
DKLEETSGLK ILQTGVGSKS KLKFLPPQAE QEDSTKFIAL TLVSLACILG VLLASGLIYC
LRHSSQHRLK EKLSGLGGDP GADATAAYQE LCRQRMATRP PDRPEGPHTS RISSVSSQFS
DGPIPSPSAR SSASSWSEEP VQSNMDISTG HMILSYMEDH LKNKNRLEKE WEALCAYQAE
PNSSFVAQRE ENVPKNRSLA VLTYDHSRVL LKAENSHSHS DYINASPIMD HDPRNPAYIA
TQGPLPATVA DFWQMVWESG CVVIVMLTPL AENGVRQCYH YWPDEGSNLY HIYEVNLVSE
HIWCEDFLVR SFYLKNLQTN ETRTVTQFHF LSWYDRGVPS SSRSLLDFRR KVNKCYRGRS
CPIIVHCSDG AGRSGTYVLI DMVLNKMAKG AKEIDIAATL EHLRDQRPGM VQTKEQFEFA
LTAVAEEVNA ILKALPQ*
speed 0.99 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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Problems