MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 12914 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr19:41970405C>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.17, LOF (oe): 0.11, misssense (oe): 0.34, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000648268.1

Genbank transcript ID

NM_152296 (exact from MANE)

UniProt / AlphaMissense peptide

AT1A3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2401G>T
g.27093G>T

AA changes

AAE:	D801Y	?
Score:	160

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Dystonia 12

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		801	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L	A
mutated	not conserved	801	L	P	L	G	T	I	T	I	L	C	I	Y	L	G	T	D	M	V	P	A	I	S	L
Ptroglodytes	all identical	799	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L
Mmulatta	all identical	801	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L
Fcatus	all identical	815	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L
Mmusculus	all identical	801	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L
Ggallus	no homologue
Trubripes	all identical	824	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	all identical	784						V	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L
Xtropicalis	all identical	813	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	1013	CHAIN		lost
793	813	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.921	1
	7.81	1
(flanking)	-0.319	0.157

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

18

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

-1

Original gDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTG

Altered gDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTG

Original cDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTC

Altered cDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTC

Wildtype AA sequence

MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE
ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL
YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL
VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV
EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST
STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR
AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL
SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE
RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL
KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI
GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL TSNIPEITPF
LLFIMANIPL PLGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI
SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALAAFLSY
CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE TYY*

Mutated AA sequence

MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE
ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL
YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL
VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV
EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST
STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR
AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL
SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE
RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL
KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI
GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL TSNIPEITPF
LLFIMANIPL PLGTITILCI YLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI
SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALAAFLSY
CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE TYY*

Position of stopcodon in wt / mu CDS

3042 / 3042

Position (AA) of stopcodon in wt / mu AA sequence

1014 / 1014

Position of stopcodon in wt / mu cDNA

3196 / 3196

Position of start ATG in wt / mu cDNA

155 / 155

Last intron/exon boundary

3167

Theoretical NMD boundary in CDS

2962

Length of CDS

3042

Coding sequence (CDS) position

2401

cDNA position

2555

gDNA position

27093

Chromosomal position

41970405

Speed

0.10 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

MutationT@ster 2025

Variant:

19:41970405C>A_2_ENST00000602133

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 12914 (pathogenic)

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr19:41970405C>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.16, LOF (oe): 0.09, misssense (oe): 0.33, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000602133.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2311G>T
g.27093G>T

AA changes

AAE:	D771Y	?
Score:	160

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Dystonia 12

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		771	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L	A
mutated	not conserved	771	L	P	L	G	T	I	T	I	L	C	I	Y	L	G	T	D	M	V	P	A	I
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)	7.921	1
	7.81	1
(flanking)	-0.319	0.157

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

18

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

-1

Original gDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTG

Altered gDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTG

Original cDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTC

Altered cDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTC

Wildtype AA sequence

MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE ILARDGPNAL TPPPTTPEWV KFCRQLFGGF
SILLWIGAIL CFLAYGIQAG TEDDPSGDNL YLGIVLAAVV IITGCFSYYQ EAKSSKIMES
FKNMVPQQAL VIREGEKMQV NAEEVVVGDL VEIKGGDRVP ADLRIISAHG CKVDNSSLTG
ESEPQTRSPD CTHDNPLETR NITFFSTNCV EGTARGVVVA TGDRTVMGRI ATLASGLEVG
KTPIAIEIEH FIQLITGVAV FLGVSFFILS LILGYTWLEA VIFLIGIIVA NVPEGLLATV
TVCLTLTAKR MARKNCLVKN LEAVETLGST STICSDKTGT LTQNRMTVAH MWFDNQIHEA
DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR AVFKGGQDNI PVLKRDVAGD ASESALLKCI
ELSSGSVKLM RERNKKVAEI PFNSTNKYQL SIHETEDPND NRYLLVMKGA PERILDRCST
ILLQGKEQPL DEEMKEAFQN AYLELGGLGE RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT
DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG IKVIMVTGDH PITAKAIAKG VGIISEGNET
VEDIAARLNI PVSQVNPRDA KACVIHGTDL KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI
IVEGCQRQGA IVAVTGDGVN DSPALKKADI GVAMGIAGSD VSKQAADMIL LDDNFASIVT
GVEEGRLIFD NLKKSIAYTL TSNIPEITPF LLFIMANIPL PLGTITILCI DLGTDMVPAI
SLAYEAAESD IMKRQPRNPR TDKLVNERLI SMAYGQIGMI QALGGFFSYF VILAENGFLP
GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ RKVVEFTCHT AFFVSIVVVQ WADLIICKTR
RNSVFQQGMK NKILIFGLFE ETALAAFLSY CPGMDVALRM YPLKPSWWFC AFPYSFLIFV
YDEIRKLILR RNPGGWVEKE TYY*

Mutated AA sequence

MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE ILARDGPNAL TPPPTTPEWV KFCRQLFGGF
SILLWIGAIL CFLAYGIQAG TEDDPSGDNL YLGIVLAAVV IITGCFSYYQ EAKSSKIMES
FKNMVPQQAL VIREGEKMQV NAEEVVVGDL VEIKGGDRVP ADLRIISAHG CKVDNSSLTG
ESEPQTRSPD CTHDNPLETR NITFFSTNCV EGTARGVVVA TGDRTVMGRI ATLASGLEVG
KTPIAIEIEH FIQLITGVAV FLGVSFFILS LILGYTWLEA VIFLIGIIVA NVPEGLLATV
TVCLTLTAKR MARKNCLVKN LEAVETLGST STICSDKTGT LTQNRMTVAH MWFDNQIHEA
DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR AVFKGGQDNI PVLKRDVAGD ASESALLKCI
ELSSGSVKLM RERNKKVAEI PFNSTNKYQL SIHETEDPND NRYLLVMKGA PERILDRCST
ILLQGKEQPL DEEMKEAFQN AYLELGGLGE RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT
DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG IKVIMVTGDH PITAKAIAKG VGIISEGNET
VEDIAARLNI PVSQVNPRDA KACVIHGTDL KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI
IVEGCQRQGA IVAVTGDGVN DSPALKKADI GVAMGIAGSD VSKQAADMIL LDDNFASIVT
GVEEGRLIFD NLKKSIAYTL TSNIPEITPF LLFIMANIPL PLGTITILCI YLGTDMVPAI
SLAYEAAESD IMKRQPRNPR TDKLVNERLI SMAYGQIGMI QALGGFFSYF VILAENGFLP
GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ RKVVEFTCHT AFFVSIVVVQ WADLIICKTR
RNSVFQQGMK NKILIFGLFE ETALAAFLSY CPGMDVALRM YPLKPSWWFC AFPYSFLIFV
YDEIRKLILR RNPGGWVEKE TYY*

Position of stopcodon in wt / mu CDS

2952 / 2952

Position (AA) of stopcodon in wt / mu AA sequence

984 / 984

Position of stopcodon in wt / mu cDNA

3105 / 3105

Position of start ATG in wt / mu cDNA

154 / 154

Last intron/exon boundary

3076

Theoretical NMD boundary in CDS

2872

Length of CDS

2952

Coding sequence (CDS) position

2311

cDNA position

2464

gDNA position

27093

Chromosomal position

41970405

Speed

0.10 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

MutationT@ster 2025

Variant:

19:41970405C>A_3_ENST00000545399

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 12914 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr19:41970405C>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.17, LOF (oe): 0.10, misssense (oe): 0.35, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000545399.6

Genbank transcript ID

NM_001256214 (by similarity)

UniProt / AlphaMissense peptide

AT1A3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2440G>T
g.27093G>T

AA changes

AAE:	D814Y	?
Score:	160

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Dystonia 12

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		814	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L	A
mutated	not conserved	814	L	P	L	G	T	I	T	I	L	C	I	Y	L	G	T	D	M	V	P	A	I	S	L
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
1	1013	CHAIN		lost
814	833	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.921	1
	7.81	1
(flanking)	-0.319	0.157

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

18

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

-1

Original gDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTG

Altered gDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTG

Original cDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTC

Altered cDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTC

Wildtype AA sequence

MGSGGSDSYR IATSQDKKDD KDSPKKNKGK ERRDLDDLKK EVAMTEHKMS VEEVCRKYNT
DCVQGLTHSK AQEILARDGP NALTPPPTTP EWVKFCRQLF GGFSILLWIG AILCFLAYGI
QAGTEDDPSG DNLYLGIVLA AVVIITGCFS YYQEAKSSKI MESFKNMVPQ QALVIREGEK
MQVNAEEVVV GDLVEIKGGD RVPADLRIIS AHGCKVDNSS LTGESEPQTR SPDCTHDNPL
ETRNITFFST NCVEGTARGV VVATGDRTVM GRIATLASGL EVGKTPIAIE IEHFIQLITG
VAVFLGVSFF ILSLILGYTW LEAVIFLIGI IVANVPEGLL ATVTVCLTLT AKRMARKNCL
VKNLEAVETL GSTSTICSDK TGTLTQNRMT VAHMWFDNQI HEADTTEDQS GTSFDKSSHT
WVALSHIAGL CNRAVFKGGQ DNIPVLKRDV AGDASESALL KCIELSSGSV KLMRERNKKV
AEIPFNSTNK YQLSIHETED PNDNRYLLVM KGAPERILDR CSTILLQGKE QPLDEEMKEA
FQNAYLELGG LGERVLGFCH YYLPEEQFPK GFAFDCDDVN FTTDNLCFVG LMSMIDPPRA
AVPDAVGKCR SAGIKVIMVT GDHPITAKAI AKGVGIISEG NETVEDIAAR LNIPVSQVNP
RDAKACVIHG TDLKDFTSEQ IDEILQNHTE IVFARTSPQQ KLIIVEGCQR QGAIVAVTGD
GVNDSPALKK ADIGVAMGIA GSDVSKQAAD MILLDDNFAS IVTGVEEGRL IFDNLKKSIA
YTLTSNIPEI TPFLLFIMAN IPLPLGTITI LCIDLGTDMV PAISLAYEAA ESDIMKRQPR
NPRTDKLVNE RLISMAYGQI GMIQALGGFF SYFVILAENG FLPGNLVGIR LNWDDRTVND
LEDSYGQQWT YEQRKVVEFT CHTAFFVSIV VVQWADLIIC KTRRNSVFQQ GMKNKILIFG
LFEETALAAF LSYCPGMDVA LRMYPLKPSW WFCAFPYSFL IFVYDEIRKL ILRRNPGGWV
EKETYY*

Mutated AA sequence

MGSGGSDSYR IATSQDKKDD KDSPKKNKGK ERRDLDDLKK EVAMTEHKMS VEEVCRKYNT
DCVQGLTHSK AQEILARDGP NALTPPPTTP EWVKFCRQLF GGFSILLWIG AILCFLAYGI
QAGTEDDPSG DNLYLGIVLA AVVIITGCFS YYQEAKSSKI MESFKNMVPQ QALVIREGEK
MQVNAEEVVV GDLVEIKGGD RVPADLRIIS AHGCKVDNSS LTGESEPQTR SPDCTHDNPL
ETRNITFFST NCVEGTARGV VVATGDRTVM GRIATLASGL EVGKTPIAIE IEHFIQLITG
VAVFLGVSFF ILSLILGYTW LEAVIFLIGI IVANVPEGLL ATVTVCLTLT AKRMARKNCL
VKNLEAVETL GSTSTICSDK TGTLTQNRMT VAHMWFDNQI HEADTTEDQS GTSFDKSSHT
WVALSHIAGL CNRAVFKGGQ DNIPVLKRDV AGDASESALL KCIELSSGSV KLMRERNKKV
AEIPFNSTNK YQLSIHETED PNDNRYLLVM KGAPERILDR CSTILLQGKE QPLDEEMKEA
FQNAYLELGG LGERVLGFCH YYLPEEQFPK GFAFDCDDVN FTTDNLCFVG LMSMIDPPRA
AVPDAVGKCR SAGIKVIMVT GDHPITAKAI AKGVGIISEG NETVEDIAAR LNIPVSQVNP
RDAKACVIHG TDLKDFTSEQ IDEILQNHTE IVFARTSPQQ KLIIVEGCQR QGAIVAVTGD
GVNDSPALKK ADIGVAMGIA GSDVSKQAAD MILLDDNFAS IVTGVEEGRL IFDNLKKSIA
YTLTSNIPEI TPFLLFIMAN IPLPLGTITI LCIYLGTDMV PAISLAYEAA ESDIMKRQPR
NPRTDKLVNE RLISMAYGQI GMIQALGGFF SYFVILAENG FLPGNLVGIR LNWDDRTVND
LEDSYGQQWT YEQRKVVEFT CHTAFFVSIV VVQWADLIIC KTRRNSVFQQ GMKNKILIFG
LFEETALAAF LSYCPGMDVA LRMYPLKPSW WFCAFPYSFL IFVYDEIRKL ILRRNPGGWV
EKETYY*

Position of stopcodon in wt / mu CDS

3081 / 3081

Position (AA) of stopcodon in wt / mu AA sequence

1027 / 1027

Position of stopcodon in wt / mu cDNA

3275 / 3275

Position of start ATG in wt / mu cDNA

195 / 195

Last intron/exon boundary

3246

Theoretical NMD boundary in CDS

3001

Length of CDS

3081

Coding sequence (CDS) position

2440

cDNA position

2634

gDNA position

27093

Chromosomal position

41970405

Speed

0.10 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

MutationT@ster 2025

Variant:

19:41970405C>A_4_ENST00000543770

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 12914 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr19:41970405C>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.21, LOF (oe): 0.14, misssense (oe): 0.35, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000543770.5

Genbank transcript ID

NM_001256213 (by similarity)

UniProt / AlphaMissense peptide

AT1A3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2434G>T
g.27093G>T

AA changes

AAE:	D812Y	?
Score:	160

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Dystonia 12

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		812	L	P	L	G	T	I	T	I	L	C	I	D	L	G	T	D	M	V	P	A	I	S	L	A
mutated	not conserved	812	L	P	L	G	T	I	T	I	L	C	I	Y	L	G	T	D	M	V	P	A	I	S	L
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
1	1013	CHAIN		lost
793	813	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.921	1
	7.81	1
(flanking)	-0.319	0.157

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

18

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

-1

Original gDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTG

Altered gDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTG

Original cDNA sequence snippet

CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTC

Altered cDNA sequence snippet

CCATCACCATCCTCTGCATCTATCTGGGCACTGACATGGTC

Wildtype AA sequence

MGGWEEERNR RATDKKDDKD SPKKNKGKER RDLDDLKKEV AMTEHKMSVE EVCRKYNTDC
VQGLTHSKAQ EILARDGPNA LTPPPTTPEW VKFCRQLFGG FSILLWIGAI LCFLAYGIQA
GTEDDPSGDN LYLGIVLAAV VIITGCFSYY QEAKSSKIME SFKNMVPQQA LVIREGEKMQ
VNAEEVVVGD LVEIKGGDRV PADLRIISAH GCKVDNSSLT GESEPQTRSP DCTHDNPLET
RNITFFSTNC VEGTARGVVV ATGDRTVMGR IATLASGLEV GKTPIAIEIE HFIQLITGVA
VFLGVSFFIL SLILGYTWLE AVIFLIGIIV ANVPEGLLAT VTVCLTLTAK RMARKNCLVK
NLEAVETLGS TSTICSDKTG TLTQNRMTVA HMWFDNQIHE ADTTEDQSGT SFDKSSHTWV
ALSHIAGLCN RAVFKGGQDN IPVLKRDVAG DASESALLKC IELSSGSVKL MRERNKKVAE
IPFNSTNKYQ LSIHETEDPN DNRYLLVMKG APERILDRCS TILLQGKEQP LDEEMKEAFQ
NAYLELGGLG ERVLGFCHYY LPEEQFPKGF AFDCDDVNFT TDNLCFVGLM SMIDPPRAAV
PDAVGKCRSA GIKVIMVTGD HPITAKAIAK GVGIISEGNE TVEDIAARLN IPVSQVNPRD
AKACVIHGTD LKDFTSEQID EILQNHTEIV FARTSPQQKL IIVEGCQRQG AIVAVTGDGV
NDSPALKKAD IGVAMGIAGS DVSKQAADMI LLDDNFASIV TGVEEGRLIF DNLKKSIAYT
LTSNIPEITP FLLFIMANIP LPLGTITILC IDLGTDMVPA ISLAYEAAES DIMKRQPRNP
RTDKLVNERL ISMAYGQIGM IQALGGFFSY FVILAENGFL PGNLVGIRLN WDDRTVNDLE
DSYGQQWTYE QRKVVEFTCH TAFFVSIVVV QWADLIICKT RRNSVFQQGM KNKILIFGLF
EETALAAFLS YCPGMDVALR MYPLKPSWWF CAFPYSFLIF VYDEIRKLIL RRNPGGWVEK
ETYY*

Mutated AA sequence

MGGWEEERNR RATDKKDDKD SPKKNKGKER RDLDDLKKEV AMTEHKMSVE EVCRKYNTDC
VQGLTHSKAQ EILARDGPNA LTPPPTTPEW VKFCRQLFGG FSILLWIGAI LCFLAYGIQA
GTEDDPSGDN LYLGIVLAAV VIITGCFSYY QEAKSSKIME SFKNMVPQQA LVIREGEKMQ
VNAEEVVVGD LVEIKGGDRV PADLRIISAH GCKVDNSSLT GESEPQTRSP DCTHDNPLET
RNITFFSTNC VEGTARGVVV ATGDRTVMGR IATLASGLEV GKTPIAIEIE HFIQLITGVA
VFLGVSFFIL SLILGYTWLE AVIFLIGIIV ANVPEGLLAT VTVCLTLTAK RMARKNCLVK
NLEAVETLGS TSTICSDKTG TLTQNRMTVA HMWFDNQIHE ADTTEDQSGT SFDKSSHTWV
ALSHIAGLCN RAVFKGGQDN IPVLKRDVAG DASESALLKC IELSSGSVKL MRERNKKVAE
IPFNSTNKYQ LSIHETEDPN DNRYLLVMKG APERILDRCS TILLQGKEQP LDEEMKEAFQ
NAYLELGGLG ERVLGFCHYY LPEEQFPKGF AFDCDDVNFT TDNLCFVGLM SMIDPPRAAV
PDAVGKCRSA GIKVIMVTGD HPITAKAIAK GVGIISEGNE TVEDIAARLN IPVSQVNPRD
AKACVIHGTD LKDFTSEQID EILQNHTEIV FARTSPQQKL IIVEGCQRQG AIVAVTGDGV
NDSPALKKAD IGVAMGIAGS DVSKQAADMI LLDDNFASIV TGVEEGRLIF DNLKKSIAYT
LTSNIPEITP FLLFIMANIP LPLGTITILC IYLGTDMVPA ISLAYEAAES DIMKRQPRNP
RTDKLVNERL ISMAYGQIGM IQALGGFFSY FVILAENGFL PGNLVGIRLN WDDRTVNDLE
DSYGQQWTYE QRKVVEFTCH TAFFVSIVVV QWADLIICKT RRNSVFQQGM KNKILIFGLF
EETALAAFLS YCPGMDVALR MYPLKPSWWF CAFPYSFLIF VYDEIRKLIL RRNPGGWVEK
ETYY*

Position of stopcodon in wt / mu CDS

3075 / 3075

Position (AA) of stopcodon in wt / mu AA sequence

1025 / 1025

Position of stopcodon in wt / mu cDNA

3111 / 3111

Position of start ATG in wt / mu cDNA

37 / 37

Last intron/exon boundary

3082

Theoretical NMD boundary in CDS

2995

Length of CDS

3075

Coding sequence (CDS) position

2434

cDNA position

2470

gDNA position

27093

Chromosomal position

41970405

Speed

0.10 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