Yum, tasty mutations...

MutationT@ster 2025

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...
Querying Taster for transcript #1: ENST00000575270
Querying Taster for transcript #2: ENST00000346183
Querying Taster for transcript #3: ENST00000349223
Querying Taster for transcript #4: ENST00000329524
MT speed 0.45 s - this script 2.89196 s

Transcript summary:

Permalink

Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:68085770G>A_3_ENST00000349223

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 75|25 (del | benign) ?
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
AAE:G30D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs977104054
gnomADhomozygous (A/A)heterozygousallele carriers
03030
Protein conservation
SpeciesMatchGeneAAAlignment
Human      30GEDGAPAPPPPGSRPADLEPDDCA
mutated  not conserved    30GEDGAPAPPPPDSRPADLEPDDC
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
21075CHAINlost
1837REGIONlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)4.1691
0.1811
(flanking)3.8041
?
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

Back to summary table

Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:68085770G>A_4_ENST00000329524

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 80|20 (del | benign) ?
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
AAE:G30D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs977104054
gnomADhomozygous (A/A)heterozygousallele carriers
03030
Protein conservation
SpeciesMatchGeneAAAlignment
Human      30GEDGAPAPPPPGSRPADLEPDDCA
mutated  not conserved    30GEDGAPAPPPPDSRPADLEPDDC
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
21075CHAINlost
1837REGIONlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)4.1691
0.1811
(flanking)3.8041
?
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

Back to summary table

Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:68085770G>A_1_ENST00000575270

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 82|18 (del | benign) ?
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
AAE:G30D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs977104054
gnomADhomozygous (A/A)heterozygousallele carriers
03030
Protein conservation
SpeciesMatchGeneAAAlignment
Human      30GEDGAPAPPPPGSRPADLEPDDCA
mutated  not conserved    30GEDGAPAPPPPDSRPADLEPDDC
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)4.1691
0.1811
(flanking)3.8041
?
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

Back to summary table

Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:68085770G>A_2_ENST00000346183

Back to summary table

Prediction:

BenignPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 32|68 (del | benign) ?
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
AAE:G30D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs977104054
gnomADhomozygous (A/A)heterozygousallele carriers
03030
Protein conservation
SpeciesMatchGeneAAAlignment
Human      30GEDGAPAPPPPGSRPADLEPDDCA
mutated  not conserved    30GEDGAPAPPPPDSRPADLEPDDC
Ptroglodytes  all identical    30GEDGAPAPPPPGSRPADLEPDDC
Mmulatta  all identical    30GEDGAPAPPPPGSRPADLEPDDC
Fcatus  all identical    30GEDGAPAPPSSGSRPADLEPDDC
Mmusculus  not conserved    30GEDGAPAPVSQVSRPADLEPDDC
Ggallus  not conserved    30GEDGQPGPGPPLG-PADLESDDC
Trubripes  not conserved    30GEDGQQPPPQQPPLGPADLEPDNN
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved    30GEETLE-----NRESVDIAPDDC
Protein features
Start (aa)End (aa)FeatureDetails 
21075CHAINlost
1837REGIONlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)4.1691
0.1811
(flanking)3.8041
?
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

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