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 0.24 s - this script 2.627403 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000346183(MANE Select)	NFATC3	Deleterious	82\|18	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000575270	NFATC3	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000349223	NFATC3	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000329524	NFATC3	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

16:68122190C>T_2_ENST00000346183

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 82|18 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:68122190C>T (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.307C>T
g.37440C>T

AA changes

AAE:	P103S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs746147782
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	15	15

Protein conservation

Species	Match	AA	Alignment
Human		103	I	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T	S
mutated	not conserved	103	I	P	E	S	K	Y	S	P	L	G	G	S	K	P	F	E	C	P	S	I	Q	I	T
Ptroglodytes	all identical	103	I	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T
Mmulatta	all identical	103	S	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T
Fcatus	all identical	103	I	P	E	S	K	Y	S	P	L	S	G	P	K	P	F	E	C	P	S	I	Q	I	T
Mmusculus	all identical	103	I	S	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T
Ggallus	all identical	102	V	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T
Trubripes	all identical	105	T	Q	D	T	K	Y	STSPLLSSA	P	L	E	A	P	K	A	F	A
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	97	I	Q	D	Y	T	C	S	S	S	F	G	P	K	S	F	E	C	P	S	I	Q	I	T

Protein features

Start (aa)	End (aa)	Feature	Details
2	1075	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.732	1
	3.653	1
(flanking)	5.609	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

1

Original gDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered gDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

Original cDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered cDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

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 DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL
CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGSKPFECPS 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

307

cDNA position

619

gDNA position

37440

Chromosomal position

68122190

Speed

0.07 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

MutationT@ster 2025

Variant:

16:68122190C>T_1_ENST00000575270

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:68122190C>T (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.307C>T
g.37440C>T

AA changes

AAE:	P103S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs746147782
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	15	15

Protein conservation

Species	Match	AA	Alignment
Human		103	I	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T	S
mutated	not conserved	103	I	P	E	S	K	Y	S	P	L	G	G	S	K	P	F	E	C	P	S	I	Q	I	T
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

	PhyloP	PhastCons
(flanking)	0.732	1
	3.653	1
(flanking)	5.609	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

1

Original gDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered gDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

Original cDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered cDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

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 DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL
CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGSKPFECPS 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

307

cDNA position

645

gDNA position

37440

Chromosomal position

68122190

Speed

0.06 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

MutationT@ster 2025

Variant:

16:68122190C>T_3_ENST00000349223

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:68122190C>T (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.307C>T
g.37440C>T

AA changes

AAE:	P103S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs746147782
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	15	15

Protein conservation

Species	Match	AA	Alignment
Human		103	I	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T	S
mutated	not conserved	103	I	P	E	S	K	Y	S	P	L	G	G	S	K	P	F	E	C	P	S	I	Q	I	T
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)	Feature	Details
2	1075	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.732	1
	3.653	1
(flanking)	5.609	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

1

Original gDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered gDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

Original cDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered cDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

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 DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL
CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGSKPFECPS 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

307

cDNA position

531

gDNA position

37440

Chromosomal position

68122190

Speed

0.06 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

MutationT@ster 2025

Variant:

16:68122190C>T_4_ENST00000329524

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:68122190C>T (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.307C>T
g.37440C>T

AA changes

AAE:	P103S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs746147782
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	15	15

Protein conservation

Species	Match	AA	Alignment
Human		103	I	P	E	S	K	Y	S	P	L	G	G	P	K	P	F	E	C	P	S	I	Q	I	T	S
mutated	not conserved	103	I	P	E	S	K	Y	S	P	L	G	G	S	K	P	F	E	C	P	S	I	Q	I	T
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)	Feature	Details
2	1075	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.732	1
	3.653	1
(flanking)	5.609	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

1

Original gDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered gDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

Original cDNA sequence snippet

AATATAGCCCATTAGGTGGTCCCAAACCCTTTGAGTGCCCA

Altered cDNA sequence snippet

AATATAGCCCATTAGGTGGTTCCAAACCCTTTGAGTGCCCA

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 DGAPAPPPPG SRPADLEPDD CASIYIFNVD PPPSTLTTPL
CLPHHGLPSH SSVLSPSFQL QSHKNYEGTC EIPESKYSPL GGSKPFECPS 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

307

cDNA position

331

gDNA position

37440

Chromosomal position

68122190

Speed

0.05 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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