MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000698836
Querying Taster for transcript #2: ENST00000532079
Querying Taster for transcript #3: ENST00000355661
Querying Taster for transcript #4: ENST00000696749
Querying Taster for transcript #5: ENST00000531066
MT speed 0.89 s - this script 3.248822 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000355661	PLEKHA7	Deleterious	69\|31	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000531066(MANE Select)	PLEKHA7	Deleterious	72\|28	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000532079	PLEKHA7	Deleterious	82\|18	3utr	No	Single base exchange	N/A
ENST00000698836	PLEKHA7	Benign	31\|69	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000696749	PLEKHA7	Benign	31\|69	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

11:16789121C>T_3_ENST00000355661

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 69|31 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:16789121C>T (GRCh38)

Gene symbol

PLEKHA7

Gene constraints

LOEUF: 0.70, LOF (oe): 0.59, misssense (oe): 0.96, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000355661.7

Genbank transcript ID

NM_175058 (by similarity), NM_001329631 (by similarity)

UniProt / AlphaMissense peptide

PKHA7_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3332G>A
g.225295G>A

AA changes

AAE:	R1111Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs761127089
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	50	50

Protein conservation

Species	Match	AA	Alignment
Human		1111	R	T	G	L	P	S	S	R	Y	L	S	R	P	L	P	G	D	L	G	S	V	C	*
mutated	all conserved	1111	R	T	G	L	P	S	S	R	Y	L	S	Q	P	L	P	G	D	L	G	S	V	C
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	1121	CHAIN		lost
1082	1121	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.428	0.002
	3.196	0.997
(flanking)	3.482	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

11

Strand

-1

Original gDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered gDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Original cDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered cDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Wildtype AA sequence

MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW
EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV
SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR
LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA
LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA
VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK
ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT
NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP
SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP
ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD
QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK
KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD
QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK
LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE
RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK
VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS
DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS
GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM
KRHQKALVRE RKRTLGQGER TGLPSSRYLS RPLPGDLGSV C*

Mutated AA sequence

MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW
EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV
SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR
LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA
LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA
VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK
ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT
NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP
SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP
ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD
QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK
KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD
QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK
LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE
RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK
VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS
DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS
GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM
KRHQKALVRE RKRTLGQGER TGLPSSRYLS QPLPGDLGSV C*

Position of stopcodon in wt / mu CDS

3366 / 3366

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

1122 / 1122

Position of stopcodon in wt / mu cDNA

3377 / 3377

Position of start ATG in wt / mu cDNA

12 / 12

Last intron/exon boundary

3167

Theoretical NMD boundary in CDS

3105

Length of CDS

3366

Coding sequence (CDS) position

3332

cDNA position

3343

gDNA position

225295

Chromosomal position

16789121

Speed

0.20 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:

11:16789121C>T_5_ENST00000531066

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 72|28 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:16789121C>T (GRCh38)

Gene symbol

PLEKHA7

Gene constraints

LOEUF: 0.73, LOF (oe): 0.61, misssense (oe): 0.96, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000531066.6

Genbank transcript ID

NM_001329630 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3332G>A
g.225295G>A

AA changes

AAE:	R1111Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs761127089
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	50	50

Protein conservation

Species	Match	AA	Alignment
Human		1111	R	T	G	L	P	S	S	R	Y	L	S	R	P	L	P	G	D	L	G	S	W	K	R	E
mutated	all conserved	1111	R	T	G	L	P	S	S	R	Y	L	S	Q	P	L	P	G	D	L	G	S	W	K	R
Ptroglodytes	all identical	1088	R	T	G	L	P	S	S	R	Y	L	S	R	P	L	P	G	D	L	G	S	W	K	R
Mmulatta	all identical	1111	R	M	G	L	P	S	S	R	Y	L	S	R	P	L	P	G	D	L	G	S	W	K	R
Fcatus	all conserved	1151		T	G	L	P	S	S	R	Y	L	S	Q	P	L	P	G	D	L	G	S	W	K	R
Mmusculus	all conserved	1108	K	T	G	L	L	S	A	R	Y	L	S	Q	P	L	P	G	D	L	G	S	W	K	R
Ggallus	all identical	1112	R	Q	S	V	-	S	S	R	S	F	I	R	P	I	S	A	D	I	G	S	W	K	R
Trubripes	all identical	2272	R	H	A	S	P	S	P	R	A	L	SSP	R	P	L	S	A	D	L	G	S	W	K	R
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	1135	K	Q	P	P	T	S	N	-	-	-	S	Q	P	L	P	A	D	I	S	S	W	R	R

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.428	0.002
	3.196	0.997
(flanking)	3.482	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

11

Strand

-1

Original gDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered gDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Original cDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered cDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Wildtype AA sequence

MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW
EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV
SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR
LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA
LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA
VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK
ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT
NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP
SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP
ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD
QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK
KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD
QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK
LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE
RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK
VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS
DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS
GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM
KRHQKALVRE RKRTLGQGER TGLPSSRYLS RPLPGDLGSW KREQDFDLQL LERVVQGEKK
DKEENGWLKV QAMPVTELDL EPQDYDLDIS RELSKPEKVS IPERYVELDP EEPPSLEELQ
ARYRKAEKIR NILARSSMCN LQPTSGQDQN SVADLDLQLQ EQERIINISY ALASEASQRS
KQVAAQAVTD P*

Mutated AA sequence

MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW
EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV
SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR
LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA
LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA
VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK
ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT
NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP
SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP
ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD
QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK
KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD
QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK
LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE
RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK
VTSPLQSPTK AKPKVEDEAP PRPPLPELYS PEDQPPAVPP LPREATIIRH TSVRGLKRQS
DERKRDRELG QCVNGDSRVE LRSYVSEPEL ATLSGDMAQP SLGLVGPESR YQTLPGRGLS
GSTSRLQQSS TIAPYVTLRR GLNAESSKAT FPRPKSALER LYSGDHQRGK MSAEEQLERM
KRHQKALVRE RKRTLGQGER TGLPSSRYLS QPLPGDLGSW KREQDFDLQL LERVVQGEKK
DKEENGWLKV QAMPVTELDL EPQDYDLDIS RELSKPEKVS IPERYVELDP EEPPSLEELQ
ARYRKAEKIR NILARSSMCN LQPTSGQDQN SVADLDLQLQ EQERIINISY ALASEASQRS
KQVAAQAVTD P*

Position of stopcodon in wt / mu CDS

3816 / 3816

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

1272 / 1272

Position of stopcodon in wt / mu cDNA

3829 / 3829

Position of start ATG in wt / mu cDNA

14 / 14

Last intron/exon boundary

3806

Theoretical NMD boundary in CDS

3742

Length of CDS

3816

Coding sequence (CDS) position

3332

cDNA position

3345

gDNA position

225295

Chromosomal position

16789121

Speed

0.16 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:

11:16789121C>T_2_ENST00000532079

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: 3utr
Tree vote: 82|18 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:16789121C>T (GRCh38)

Gene symbol

PLEKHA7

Gene constraints

LOEUF: 1.65, LOF (oe): 0.97, misssense (oe): 1.18, synonymous (oe): 1.20 ? (gnomAD)

Ensembl transcript ID

ENST00000532079.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.427G>A
g.225295G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs761127089
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	50	50

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.428	0.002
	3.196	0.997
(flanking)	3.482	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered gDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Original cDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered cDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Wildtype AA sequence

MAASSSSMTS SAARPGCIRA PGSPSTRGPR QGSSSRPPLL PTSHSGGVSM PKAARRPSLD
LRVPWSACTQ GITSEAR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

76 / 76

Last intron/exon boundary

251

Theoretical NMD boundary in CDS

125

Length of CDS

234

Coding sequence (CDS) position

N/A

cDNA position

427

gDNA position

225295

Chromosomal position

16789121

Speed

0.18 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:

11:16789121C>T_1_ENST00000698836

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 31|69 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:16789121C>T (GRCh38)

Gene symbol

PLEKHA7

Gene constraints

no data

Ensembl transcript ID

ENST00000698836.1

Genbank transcript ID

NM_001410960 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3335G>A
g.225295G>A

AA changes

AAE:	R1112Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs761127089
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	50	50

Protein conservation

Species	Match	AA	Alignment
Human		1112	R	T	G	L	P	S	S	R	Y	L	S	R	P	L	P	G	D	L	G	S	W	K	R	E
mutated	all conserved	1112	R	T	G	L	P	S	S	R	Y	L	S	Q	P	L	P	G	D	L	G	S	W	K	R
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)	-1.428	0.002
	3.196	0.997
(flanking)	3.482	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

11

Strand

-1

Original gDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered gDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Original cDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered cDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Wildtype AA sequence

MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW
EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV
SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR
LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA
LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA
VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK
ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT
NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP
SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP
ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD
QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK
KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD
QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK
LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE
RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK
VTSPLQSPTK AKPKVQEDEA PPRPPLPELY SPEDQPPAVP PLPREATIIR HTSVRGLKRQ
SDERKRDREL GQCVNGDSRV ELRSYVSEPE LATLSGDMAQ PSLGLVGPES RYQTLPGRGL
SGSTSRLQQS STIAPYVTLR RGLNAESSKA TFPRPKSALE RLYSGDHQRG KMSAEEQLER
MKRHQKALVR ERKRTLGQGE RTGLPSSRYL SRPLPGDLGS WKREQDFDLQ LLERVVQGEK
KDKEENGWLK VQAMPVTELD LEPQDYDLDI SRELSKPEKV SIPERYVELD PEEPPSLEEL
QARYRKAEKI RNILARSSMC NLQPTSGQDQ NSVADLDLQL QEQERIINIS YALASEASQR
SKQVAAQAVT DP*

Mutated AA sequence

MAAATVGRDT LPEHWSYGVC RDGRVFFIND QLRCTTWLHP RTGEPVNSGH MIRSDLPRGW
EEGFTEEGAS YFIDHNQQTT AFRHPVTGQF SPENSEFILQ EEPNPHMSKQ DRNQRPSSMV
SETSTAGTAS TLEAKPGPKI IKSSSKVHSF GKRDQAIRRN PNVPVVVRGW LHKQDSSGMR
LWKRRWFVLA DYCLFYYKDS REEAVLGSIP LPSYVISPVA PEDRISRKYS FKAVHTGMRA
LIYNSSTAGS QAEQSGMRTY YFSADTQEDM NAWVRAMNQA AQVLSRSSLK RDMEKVERQA
VPQANHTESC HECGRVGPGH TRDCPHRGHD DIVNFERQEQ EGEQYRSQRD PLEGKRDRSK
ARSPYSPAEE DALFMDLPTG PRGQQAQPQR AEKNGMLPAS YGPGEQNGTG GYQRAFPPRT
NPEKHSQRKS NLAQVEHWAR AQKGDSRSLP LDQTLPRQGP GQSLSFPENY QTLPKSTRHP
SGGSSPPPRN LPSDYKYAQD RASHLKMSSE ERRAHRDGTV WQLYEWQQRQ QFRHGSPTAP
ICLGSPEFTD QGRSRSMLEV PRSISVPPSP SDIPPPGPPR VFPPRRPHTP AERVTVKPPD
QRRSVDISLG DSPRRARGHA VKNSSHVDRR SMPSMGYMTH TVSAPSLHGK SADDTYLQLK
KDLEYLDLKM TGRDLLKDRS LKPVKIAESD TDVKLSIFCE QDRVLQDLED KIRALKENKD
QLESVLEVLH RQMEQYRDQP QHLEKIAYQQ KLLQEDLVHI RAELSRESTE MENAWNEYLK
LENDVEQLKQ TLQEQHRRAF FFQEKSQIQK DLWRIEDVTA GLSANKENFR ILVESVKNPE
RKTVPLFPHP PVPSLSTSES KPPPQPSPPT SPVRTPLEVR LFPQLQTYVP YRPHPPQLRK
VTSPLQSPTK AKPKVQEDEA PPRPPLPELY SPEDQPPAVP PLPREATIIR HTSVRGLKRQ
SDERKRDREL GQCVNGDSRV ELRSYVSEPE LATLSGDMAQ PSLGLVGPES RYQTLPGRGL
SGSTSRLQQS STIAPYVTLR RGLNAESSKA TFPRPKSALE RLYSGDHQRG KMSAEEQLER
MKRHQKALVR ERKRTLGQGE RTGLPSSRYL SQPLPGDLGS WKREQDFDLQ LLERVVQGEK
KDKEENGWLK VQAMPVTELD LEPQDYDLDI SRELSKPEKV SIPERYVELD PEEPPSLEEL
QARYRKAEKI RNILARSSMC NLQPTSGQDQ NSVADLDLQL QEQERIINIS YALASEASQR
SKQVAAQAVT DP*

Position of stopcodon in wt / mu CDS

3819 / 3819

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

1273 / 1273

Position of stopcodon in wt / mu cDNA

3833 / 3833

Position of start ATG in wt / mu cDNA

15 / 15

Last intron/exon boundary

3810

Theoretical NMD boundary in CDS

3745

Length of CDS

3819

Coding sequence (CDS) position

3335

cDNA position

3349

gDNA position

225295

Chromosomal position

16789121

Speed

0.18 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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MutationT@ster 2025

Variant:

11:16789121C>T_4_ENST00000696749

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 31|69 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:16789121C>T (GRCh38)

Gene symbol

PLEKHA7

Gene constraints

no data

Ensembl transcript ID

ENST00000696749.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.3203G>A
g.225295G>A

AA changes

AAE:	R1068Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs761127089
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	50	50

Protein conservation

Species	Match	AA	Alignment
Human		1068	R	T	G	L	P	S	S	R	Y	L	S	R	P	L	P	G	D	L	G	S	V	C	*
mutated	all conserved	1068	R	T	G	L	P	S	S	R	Y	L	S	Q	P	L	P	G	D	L	G	S	V	C
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)	-1.428	0.002
	3.196	0.997
(flanking)	3.482	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

11

Strand

-1

Original gDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered gDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Original cDNA sequence snippet

CTCATCTCGCTACCTCAGCCGGCCGCTCCCTGGAGATCTTG

Altered cDNA sequence snippet

CTCATCTCGCTACCTCAGCCAGCCGCTCCCTGGAGATCTTG

Wildtype AA sequence

MLPWRKFEGL WLLLSRLGGQ SLHRVAADNT SHNQQTTAFR HPVTGQFSPE NSEFILQEEP
NPHMSKQDRN QRPSSMVSET STAGTASTLE AKPGPKIIKS SSKVHSFGKR DQAIRRNPNV
PVVVRGWLHK QDSSGMRLWK RRWFVLADYC LFYYKDSREE AVLGSIPLPS YVISPVAPED
RISRKYSFKA VHTGMRALIY NSSTAGSQAE QSGMRTYYFS ADTQEDMNAW VRAMNQAAQV
LSRSSLKRDM EKVERQAVPQ ANHTESCHEC GRVGPGHTRD CPHRGHDDIV NFERQEQEGE
QYRSQRDPLE GKRDRSKARS PYSPAEEDAL FMDLPTGPRG QQAQPQRAEK NGMLPASYGP
GEQNGTGGYQ RAFPPRTNPE KHSQRKSNLA QVEHWARAQK GDSRSLPLDQ TLPRQGPGQS
LSFPENYQTL PKSTRHPSGG SSPPPRNLPS DYKYAQDRAS HLKMSSEERR AHRDGTVWQL
YEWQQRQQFR HGSPTAPICL GSPEFTDQGR SRSMLEVPRS ISVPPSPSDI PPPGPPRVFP
PRRPHTPAER VTVKPPDQRR SVDISLGDSP RRARGHAVKN SSHVDRRSMP SMGYMTHTVS
APSLHGKSAD DTYLQLKKDL EYLDLKMTGR DLLKDRSLKP VKIAESDTDV KLSIFCEQDR
VLQDLEDKIR ALKENKDQLE SVLEVLHRQM EQYRDQPQHL EKIAYQQKLL QEDLVHIRAE
LSRESTEMEN AWNEYLKLEN DVEQLKQTLQ EQHRRAFFFQ EKSQIQKDLW RIEDVTAGLS
ANKENFRILV ESVKNPERKT VPLFPHPPVP SLSTSESKPP PQPSPPTSPV RTPLEVRLFP
QLQTYVPYRP HPPQLRKVTS PLQSPTKAKP KVEDEAPPRP PLPELYSPED QPPAVPPLPR
EATIIRHTSV RGLKRQSDER KRDRELGQCV NGDSRVELRS YVSEPELATL SGDMAQPSLG
LVGPESRYQT LPGRGLSGST SRLQQSSTIA PYVTLRRGLN AESSKATFPR PKSALERLYS
GDHQRGKMSA EEQLERMKRH QKALVRERKR TLGQGERTGL PSSRYLSRPL PGDLGSVC*

Mutated AA sequence

MLPWRKFEGL WLLLSRLGGQ SLHRVAADNT SHNQQTTAFR HPVTGQFSPE NSEFILQEEP
NPHMSKQDRN QRPSSMVSET STAGTASTLE AKPGPKIIKS SSKVHSFGKR DQAIRRNPNV
PVVVRGWLHK QDSSGMRLWK RRWFVLADYC LFYYKDSREE AVLGSIPLPS YVISPVAPED
RISRKYSFKA VHTGMRALIY NSSTAGSQAE QSGMRTYYFS ADTQEDMNAW VRAMNQAAQV
LSRSSLKRDM EKVERQAVPQ ANHTESCHEC GRVGPGHTRD CPHRGHDDIV NFERQEQEGE
QYRSQRDPLE GKRDRSKARS PYSPAEEDAL FMDLPTGPRG QQAQPQRAEK NGMLPASYGP
GEQNGTGGYQ RAFPPRTNPE KHSQRKSNLA QVEHWARAQK GDSRSLPLDQ TLPRQGPGQS
LSFPENYQTL PKSTRHPSGG SSPPPRNLPS DYKYAQDRAS HLKMSSEERR AHRDGTVWQL
YEWQQRQQFR HGSPTAPICL GSPEFTDQGR SRSMLEVPRS ISVPPSPSDI PPPGPPRVFP
PRRPHTPAER VTVKPPDQRR SVDISLGDSP RRARGHAVKN SSHVDRRSMP SMGYMTHTVS
APSLHGKSAD DTYLQLKKDL EYLDLKMTGR DLLKDRSLKP VKIAESDTDV KLSIFCEQDR
VLQDLEDKIR ALKENKDQLE SVLEVLHRQM EQYRDQPQHL EKIAYQQKLL QEDLVHIRAE
LSRESTEMEN AWNEYLKLEN DVEQLKQTLQ EQHRRAFFFQ EKSQIQKDLW RIEDVTAGLS
ANKENFRILV ESVKNPERKT VPLFPHPPVP SLSTSESKPP PQPSPPTSPV RTPLEVRLFP
QLQTYVPYRP HPPQLRKVTS PLQSPTKAKP KVEDEAPPRP PLPELYSPED QPPAVPPLPR
EATIIRHTSV RGLKRQSDER KRDRELGQCV NGDSRVELRS YVSEPELATL SGDMAQPSLG
LVGPESRYQT LPGRGLSGST SRLQQSSTIA PYVTLRRGLN AESSKATFPR PKSALERLYS
GDHQRGKMSA EEQLERMKRH QKALVRERKR TLGQGERTGL PSSRYLSQPL PGDLGSVC*

Position of stopcodon in wt / mu CDS

3237 / 3237

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

1079 / 1079

Position of stopcodon in wt / mu cDNA

3237 / 3237

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

3027

Theoretical NMD boundary in CDS

2976

Length of CDS

3237

Coding sequence (CDS) position

3203

cDNA position

3203

gDNA position

225295

Chromosomal position

16789121

Speed

0.17 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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