Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFATC3 | Deleterious | 75|25 | simple_ | No | Single base exchange | Normal |
| ||||||
NFATC3 | Deleterious | 80|20 | simple_ | No | Single base exchange | Normal |
| ||||||
NFATC3 | Deleterious | 82|18 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000346183(MANE Select) | NFATC3 | Benign | 32|68 | simple_ | No | Single base exchange | Normal |
|
Analysed issue | Analysis result | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variant | Chr16:68085770G>A (GRCh38) | ||||||||||||||||
Gene symbol | NFATC3 | ||||||||||||||||
Gene constraints | LOEUF: 0.64, LOF (oe): 0.50, misssense (oe): 0.93, synonymous (oe): 1.05 (gnomAD) | ||||||||||||||||
Ensembl transcript ID | ENST00000349223.9 | ||||||||||||||||
Genbank transcript ID | NM_173163 (by similarity) | ||||||||||||||||
UniProt / AlphaMissense peptide | NFAC3_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
Variant type | Single base exchange | ||||||||||||||||
Gene region | CDS | ||||||||||||||||
DNA changes | c.89G>A g.1020G>A | ||||||||||||||||
AA changes |
| ||||||||||||||||
Frameshift | No | ||||||||||||||||
Length of protein | Normal | ||||||||||||||||
Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
Variant DBs |
| ||||||||||||||||
Protein conservation | |||||||||||||||||
Protein features |
| ||||||||||||||||
Phylogenetic conservation |
| ||||||||||||||||
Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
Distance from splice site | 15 | ||||||||||||||||
Kozak consensus sequence altered? | No | ||||||||||||||||
poly(A) signal | N/A | ||||||||||||||||
AA sequence altered | Yes | ||||||||||||||||
Chromosome | 16 | ||||||||||||||||
Strand | 1 | ||||||||||||||||
Original gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGGTGGGT | ||||||||||||||||
Altered gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGGTGGGT | ||||||||||||||||
Original cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGATCTTG | ||||||||||||||||
Altered cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGATCTTG | ||||||||||||||||
Wildtype AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDDLFTS NNFDLLQLRP TFWPVPAGRY LRNLE* | ||||||||||||||||
Mutated AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPD SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDDLFTS NNFDLLQLRP TFWPVPAGRY LRNLE* | ||||||||||||||||
Position of stopcodon in wt / mu CDS | 3198 / 3198 | ||||||||||||||||
Position (AA) of stopcodon in wt / mu AA sequence | 1066 / 1066 | ||||||||||||||||
Position of stopcodon in wt / mu cDNA | 3422 / 3422 | ||||||||||||||||
Position of start ATG in wt / mu cDNA | 225 / 225 | ||||||||||||||||
Last intron/exon boundary | 3419 | ||||||||||||||||
Theoretical NMD boundary in CDS | 3144 | ||||||||||||||||
Length of CDS | 3198 | ||||||||||||||||
Coding sequence (CDS) position | 89 | ||||||||||||||||
cDNA position | 313 | ||||||||||||||||
gDNA position | 1020 | ||||||||||||||||
Chromosomal position | 68085770 | ||||||||||||||||
Speed | 0.11 s |
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
Analysed issue | Analysis result | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variant | Chr16:68085770G>A (GRCh38) | ||||||||||||||||
Gene symbol | NFATC3 | ||||||||||||||||
Gene constraints | LOEUF: 0.59, LOF (oe): 0.45, misssense (oe): 0.94, synonymous (oe): 1.05 (gnomAD) | ||||||||||||||||
Ensembl transcript ID | ENST00000329524.8 | ||||||||||||||||
Genbank transcript ID | NM_004555 (by similarity) | ||||||||||||||||
UniProt / AlphaMissense peptide | NFAC3_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
Variant type | Single base exchange | ||||||||||||||||
Gene region | CDS | ||||||||||||||||
DNA changes | c.89G>A g.1020G>A | ||||||||||||||||
AA changes |
| ||||||||||||||||
Frameshift | No | ||||||||||||||||
Length of protein | Normal | ||||||||||||||||
Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
Variant DBs |
| ||||||||||||||||
Protein conservation | |||||||||||||||||
Protein features |
| ||||||||||||||||
Phylogenetic conservation |
| ||||||||||||||||
Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
Distance from splice site | 15 | ||||||||||||||||
Kozak consensus sequence altered? | No | ||||||||||||||||
poly(A) signal | N/A | ||||||||||||||||
AA sequence altered | Yes | ||||||||||||||||
Chromosome | 16 | ||||||||||||||||
Strand | 1 | ||||||||||||||||
Original gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGGTGGGT | ||||||||||||||||
Altered gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGGTGGGT | ||||||||||||||||
Original cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGATCTTG | ||||||||||||||||
Altered cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGATCTTG | ||||||||||||||||
Wildtype AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDDQFIS DLEHQPSGSA EKWPNHSVLS CPAPFWRI* | ||||||||||||||||
Mutated AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPD SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDDQFIS DLEHQPSGSA EKWPNHSVLS CPAPFWRI* | ||||||||||||||||
Position of stopcodon in wt / mu CDS | 3207 / 3207 | ||||||||||||||||
Position (AA) of stopcodon in wt / mu AA sequence | 1069 / 1069 | ||||||||||||||||
Position of stopcodon in wt / mu cDNA | 3231 / 3231 | ||||||||||||||||
Position of start ATG in wt / mu cDNA | 25 / 25 | ||||||||||||||||
Last intron/exon boundary | 3234 | ||||||||||||||||
Theoretical NMD boundary in CDS | 3159 | ||||||||||||||||
Length of CDS | 3207 | ||||||||||||||||
Coding sequence (CDS) position | 89 | ||||||||||||||||
cDNA position | 113 | ||||||||||||||||
gDNA position | 1020 | ||||||||||||||||
Chromosomal position | 68085770 | ||||||||||||||||
Speed | 0.11 s |
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
Analysed issue | Analysis result | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variant | Chr16:68085770G>A (GRCh38) | |||||||||||||
Gene symbol | NFATC3 | |||||||||||||
Gene constraints | LOEUF: 0.58, LOF (oe): 0.45, misssense (oe): 0.93, synonymous (oe): 1.05 (gnomAD) | |||||||||||||
Ensembl transcript ID | ENST00000575270.5 | |||||||||||||
Genbank transcript ID | ||||||||||||||
UniProt / AlphaMissense peptide | N/A | |||||||||||||
Variant type | Single base exchange | |||||||||||||
Gene region | CDS | |||||||||||||
DNA changes | c.89G>A g.1020G>A | |||||||||||||
AA changes |
| |||||||||||||
Frameshift | No | |||||||||||||
Length of protein | Normal | |||||||||||||
Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
Variant DBs |
| |||||||||||||
Protein conservation | ||||||||||||||
Protein features | N/A | |||||||||||||
Phylogenetic conservation |
| |||||||||||||
Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
Distance from splice site | 15 | |||||||||||||
Kozak consensus sequence altered? | No | |||||||||||||
poly(A) signal | N/A | |||||||||||||
AA sequence altered | Yes | |||||||||||||
Chromosome | 16 | |||||||||||||
Strand | 1 | |||||||||||||
Original gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGGTGGGT | |||||||||||||
Altered gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGGTGGGT | |||||||||||||
Original cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGATCTTG | |||||||||||||
Altered cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGATCTTG | |||||||||||||
Wildtype AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDGFVKA EKPLSHD* | |||||||||||||
Mutated AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPD SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDGFVKA EKPLSHD* | |||||||||||||
Position of stopcodon in wt / mu CDS | 3144 / 3144 | |||||||||||||
Position (AA) of stopcodon in wt / mu AA sequence | 1048 / 1048 | |||||||||||||
Position of stopcodon in wt / mu cDNA | 3482 / 3482 | |||||||||||||
Position of start ATG in wt / mu cDNA | 339 / 339 | |||||||||||||
Last intron/exon boundary | 3444 | |||||||||||||
Theoretical NMD boundary in CDS | 3055 | |||||||||||||
Length of CDS | 3144 | |||||||||||||
Coding sequence (CDS) position | 89 | |||||||||||||
cDNA position | 427 | |||||||||||||
gDNA position | 1020 | |||||||||||||
Chromosomal position | 68085770 | |||||||||||||
Speed | 0.11 s |
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
Analysed issue | Analysis result | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variant | Chr16:68085770G>A (GRCh38) | ||||||||||||||||
Gene symbol | NFATC3 | ||||||||||||||||
Gene constraints | LOEUF: 0.61, LOF (oe): 0.47, misssense (oe): 0.94, synonymous (oe): 1.05 (gnomAD) | ||||||||||||||||
Ensembl transcript ID | ENST00000346183.8 | ||||||||||||||||
Genbank transcript ID | NM_173165 (exact from MANE) | ||||||||||||||||
UniProt / AlphaMissense peptide | NFAC3_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
Variant type | Single base exchange | ||||||||||||||||
Gene region | CDS | ||||||||||||||||
DNA changes | c.89G>A g.1020G>A | ||||||||||||||||
AA changes |
| ||||||||||||||||
Frameshift | No | ||||||||||||||||
Length of protein | Normal | ||||||||||||||||
Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
Variant DBs |
| ||||||||||||||||
Protein conservation | |||||||||||||||||
Protein features |
| ||||||||||||||||
Phylogenetic conservation |
| ||||||||||||||||
Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
Distance from splice site | 15 | ||||||||||||||||
Kozak consensus sequence altered? | No | ||||||||||||||||
poly(A) signal | N/A | ||||||||||||||||
AA sequence altered | Yes | ||||||||||||||||
Chromosome | 16 | ||||||||||||||||
Strand | 1 | ||||||||||||||||
Original gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGGTGGGT | ||||||||||||||||
Altered gDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGGTGGGT | ||||||||||||||||
Original cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGGCTCGCGGCCTGCAGATCTTG | ||||||||||||||||
Altered cDNA sequence snippet | GCCGGCGCCGCCGCCCCCGGACTCGCGGCCTGCAGATCTTG | ||||||||||||||||
Wildtype AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDVNEII GRDMSQISVS QGAGVSRQAP LPSPESLDLG RSDGL* | ||||||||||||||||
Mutated AA sequence | MTTANCGAHD ELDFKLVFGE DGAPAPPPPD SRPADLEPDD CASIYIFNVD PPPSTLTTPL CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGPKPFECPS IQITSISPNC HQELDAHEDD LQINDPEREF LERPSRDHLY LPLEPSYRES SLSPSPASSI SSRSWFSDAS SCESLSHIYD DVDSELNEAA ARFTLGSPLT SPGGSPGGCP GEETWHQQYG LGHSLSPRQS PCHSPRSSVT DENWLSPRPA SGPSSRPTSP CGKRRHSSAE VCYAGSLSPH HSPVPSPGHS PRGSVTEDTW LNASVHGGSG LGPAVFPFQY CVETDIPLKT RKTSEDQAAI LPGKLELCSD DQGSLSPARE TSIDDGLGSQ YPLKKDSCGD QFLSVPSPFT WSKPKPGHTP IFRTSSLPPL DWPLPAHFGQ CELKIEVQPK THHRAHYETE GSRGAVKAST GGHPVVKLLG YNEKPINLQM FIGTADDRYL RPHAFYQVHR ITGKTVATAS QEIIIASTKV LEIPLLPENN MSASIDCAGI LKLRNSDIEL RKGETDIGRK NTRVRLVFRV HIPQPSGKVL SLQIASIPVE CSQRSAQELP HIEKYSINSC SVNGGHEMVV TGSNFLPESK IIFLEKGQDG RPQWEVEGKI IREKCQGAHI VLEVPPYHNP AVTAAVQVHF YLCNGKRKKS QSQRFTYTPV LMKQEHREEI DLSSVPSLPV PHPAQTQRPS SDSGCSHDSV LSGQRSLICS IPQTYASMVT SSHLPQLQCR DESVSKEQHM IPSPIVHQPF QVTPTPPVGS SYQPMQTNVV YNGPTCLPIN AASSQEFDSV LFQQDATLSG LVNLGCQPLS SIPFHSSNSG STGHLLAHTP HSVHTLPHLQ SMGYHCSNTG QRSLSSPVAD QITGQPSSQL QPITYGPSHS GSATTASPAA SHPLASSPLS GPPSPQLQPM PYQSPSSGTA SSPSPATRMH SGQHSTQAQS TGQGGLSAPS SLICHSLCDP ASFPPDGATV SIKPEPEDRE PNFATIGLQD ITLDDVNEII GRDMSQISVS QGAGVSRQAP LPSPESLDLG RSDGL* | ||||||||||||||||
Position of stopcodon in wt / mu CDS | 3228 / 3228 | ||||||||||||||||
Position (AA) of stopcodon in wt / mu AA sequence | 1076 / 1076 | ||||||||||||||||
Position of stopcodon in wt / mu cDNA | 3540 / 3540 | ||||||||||||||||
Position of start ATG in wt / mu cDNA | 313 / 313 | ||||||||||||||||
Last intron/exon boundary | 3418 | ||||||||||||||||
Theoretical NMD boundary in CDS | 3055 | ||||||||||||||||
Length of CDS | 3228 | ||||||||||||||||
Coding sequence (CDS) position | 89 | ||||||||||||||||
cDNA position | 401 | ||||||||||||||||
gDNA position | 1020 | ||||||||||||||||
Chromosomal position | 68085770 | ||||||||||||||||
Speed | 0.12 s |
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project