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: ENST00000380714
Querying Taster for transcript #2: ENST00000380712
Querying Taster for transcript #3: ENST00000348912
Querying Taster for transcript #4: ENST00000380736
Querying Taster for transcript #5: ENST00000337414
Querying Taster for transcript #6: ENST00000380718
MT speed 1.08 s - this script 3.575343 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Amino acid changes	Variant type	Protein length	Features at a glance
ENST00000380714(MANE Select)	AMELX	Deleterious	8\|2	complex_aae	No	first 16 AA missing	Single base exchange	Delayed start of translation	Amino acid sequence changed Kozak consensus sequence changed Protein features (might be) affected Start ATG shifted
ENST00000380712	AMELX	Deleterious	8\|2	complex_aae	No	first 16 AA missing	Single base exchange	Delayed start of translation	Amino acid sequence changed Kozak consensus sequence changed Protein features (might be) affected Start ATG shifted
ENST00000348912	AMELX	Deleterious	8\|2	complex_aae	No	first 16 AA missing	Single base exchange	Delayed start of translation	Amino acid sequence changed Kozak consensus sequence changed Protein features (might be) affected Start ATG shifted
ENST00000380736	ARHGAP6	Benign	0\|200	without_aae	No		Single base exchange	N/A
ENST00000337414(MANE Select)	ARHGAP6	Benign	0\|200	without_aae	No		Single base exchange	N/A
ENST00000380718	ARHGAP6	Benign	0\|200	without_aae	No		Single base exchange	N/A

MutationT@ster 2025

Variant:

23:11294791G>A_1_ENST00000380714

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Kozak consensus sequence changed
Protein features (might be) affected
Start ATG shifted

Model: complex_aae
Tree vote: 8|2 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:11294791G>A (GRCh38)

Gene symbol

AMELX

Gene constraints

no data

Ensembl transcript ID

ENST00000380714.7

Genbank transcript ID

NM_001142 (exact from MANE)

UniProt / AlphaMissense peptide

AMELX_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS
spans start ATG

DNA changes

c.3G>A
g.1379G>A

AA changes

M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 16 AA at beginning of AA sequence are missing

AAE:

M1-

G2-

T3-

W4-

I5-

L6-

F7-

A8-

C9-

L10-

L11-

G12-

A13-

A14-

F15-

A16-

?

Score:

-

Frameshift

No

Length of protein

Delayed start of translation

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA
Human		1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	L	P	P	H	P	G	H	P	G	Y
mutated	not conserved	-15																	M	P	L	P	P	H	P	G	H	P	G	Y	I	N	F	S	Y	E	V	L	T
Ptroglodytes	all identical	1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	L	P	P	H	P	G	H	P	G	Y	I	N	F	S	Y	ENSHSQAINVDRTAL	V	L	T
Mmulatta	all identical	1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	L	P	P	H	P	G	H	P	G	Y	I	N	F	S	Y	ENSHSQAINVDRTAL	V	L	T
Fcatus	all identical	1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	L	P	P	H	P	G	H	P	G	Y	I	N	F	S	Y	ENSHFQAIDIDRTA	V	L	T
Mmusculus	all identical	1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	L	P	P	H	P	G	S	P	G	Y	I	N	L	S	Y	E	V	L	T
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	18	M	R	L	W	V	M	L	T	A	L	T	G	A	A	F	S	V	P	L	P	P	H	P	Q	H	P	G	Y	V	N	F	S	Y	E	I	L	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	16	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

1

Original gDNA sequence snippet

TTTCAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGC

Altered gDNA sequence snippet

TTTCAGAACCATCAAGAAATAGGGACCTGGATTTTATTTGC

Original cDNA sequence snippet

TCAAAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGC

Altered cDNA sequence snippet

TCAAAGAACCATCAAGAAATAGGGACCTGGATTTTATTTGC

Wildtype AA sequence

MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSIRPPYP SYGYEPMGGW
LHHQIIPVLS QQHPPTHTLQ PHHHIPVVPA QQPVIPQQPM MPVPGQHSMT PIQHHQPNLP
PPAQQPYQPQ PVQPQPHQPM QPQPPVHPMQ PLPPQPPLPP MFPMQPLPPM LPDLTLEAWP
STDKTKREEV D*

Mutated AA sequence

MPLPPHPGHP GYINFSYEVL TPLKWYQSIR PPYPSYGYEP MGGWLHHQII PVLSQQHPPT
HTLQPHHHIP VVPAQQPVIP QQPMMPVPGQ HSMTPIQHHQ PNLPPPAQQP YQPQPVQPQP
HQPMQPQPPV HPMQPLPPQP PLPPMFPMQP LPPMLPDLTL EAWPSTDKTK REEVD*

Position of stopcodon in wt / mu CDS

576 / 528

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

192 / 176

Position of stopcodon in wt / mu cDNA

644 / 596

Position of start ATG in wt / mu cDNA

69 / 117

Last intron/exon boundary

638

Theoretical NMD boundary in CDS

519

Length of CDS

576

Coding sequence (CDS) position

3

cDNA position

71

gDNA position

1379

Chromosomal position

11294791

Speed

0.40 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:

23:11294791G>A_2_ENST00000380712

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Kozak consensus sequence changed
Protein features (might be) affected
Start ATG shifted

Model: complex_aae
Tree vote: 8|2 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:11294791G>A (GRCh38)

Gene symbol

AMELX

Gene constraints

no data

Ensembl transcript ID

ENST00000380712.7

Genbank transcript ID

NM_182680 (by similarity)

UniProt / AlphaMissense peptide

AMELX_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS
spans start ATG

DNA changes

c.3G>A
g.1379G>A

AA changes

M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 16 AA at beginning of AA sequence are missing

AAE:

M1-

G2-

T3-

W4-

I5-

L6-

F7-

A8-

C9-

L10-

L11-

G12-

A13-

A14-

F15-

A16-

?

Score:

-

Frameshift

No

Length of protein

Delayed start of translation

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA
Human		1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	L	P	P	H	P	G	H	P	G	Y
mutated	not conserved	-15																	M	P	L	P	P	H	P	G	H	P	G	Y	I	N	F	S	Y	E	N	S	H
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	16	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

1

Original gDNA sequence snippet

TTTCAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGC

Altered gDNA sequence snippet

TTTCAGAACCATCAAGAAATAGGGACCTGGATTTTATTTGC

Original cDNA sequence snippet

TCAAAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGC

Altered cDNA sequence snippet

TCAAAGAACCATCAAGAAATAGGGACCTGGATTTTATTTGC

Wildtype AA sequence

MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYENSHSQA INVDRTALVL TPLKWYQSIR
PPYPSYGYEP MGGWLHHQII PVLSQQHPPT HTLQPHHHIP VVPAQQPVIP QQPMMPVPGQ
HSMTPIQHHQ PNLPPPAQQP YQPQPVQPQP HQPMQPQPPV HPMQPLPPQP PLPPMFPMQP
LPPMLPDLTL EAWPSTDKTK REEVD*

Mutated AA sequence

MPLPPHPGHP GYINFSYENS HSQAINVDRT ALVLTPLKWY QSIRPPYPSY GYEPMGGWLH
HQIIPVLSQQ HPPTHTLQPH HHIPVVPAQQ PVIPQQPMMP VPGQHSMTPI QHHQPNLPPP
AQQPYQPQPV QPQPHQPMQP QPPVHPMQPL PPQPPLPPMF PMQPLPPMLP DLTLEAWPST
DKTKREEVD*

Position of stopcodon in wt / mu CDS

618 / 570

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

206 / 190

Position of stopcodon in wt / mu cDNA

686 / 638

Position of start ATG in wt / mu cDNA

69 / 117

Last intron/exon boundary

680

Theoretical NMD boundary in CDS

561

Length of CDS

618

Coding sequence (CDS) position

3

cDNA position

71

gDNA position

1379

Chromosomal position

11294791

Speed

0.21 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:

23:11294791G>A_3_ENST00000348912

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Kozak consensus sequence changed
Protein features (might be) affected
Start ATG shifted

Model: complex_aae
Tree vote: 8|2 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:11294791G>A (GRCh38)

Gene symbol

AMELX

Gene constraints

no data

Ensembl transcript ID

ENST00000348912.4

Genbank transcript ID

NM_182681 (by similarity)

UniProt / AlphaMissense peptide

AMELX_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS
spans start ATG

DNA changes

c.3G>A
g.1379G>A

AA changes

M1? initiating Methionine lost
possible effect: activation of potential downstream translation initiation site with same reading frame resulting in shortened AA sequence, 16 AA at beginning of AA sequence are missing

AAE:

M1-

G2-

T3-

W4-

I5-

L6-

F7-

A8-

C9-

L10-

L11-

G12-

A13-

A14-

F15-

A16-

?

Score:

-

Frameshift

No

Length of protein

Delayed start of translation

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA
Human		1	M	G	T	W	I	L	F	A	C	L	L	G	A	A	F	A	M	P	V	L	T	P	L	K	W	Y	Q	S
mutated	not conserved	-15																	M	P	V	L	T	P	L	K	W	Y	Q	S	I	R	P	P	Y	P	S	Y	G
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	16	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

1

Original gDNA sequence snippet

TTTCAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGC

Altered gDNA sequence snippet

TTTCAGAACCATCAAGAAATAGGGACCTGGATTTTATTTGC

Original cDNA sequence snippet

TCAAAGAACCATCAAGAAATGGGGACCTGGATTTTATTTGC

Altered cDNA sequence snippet

TCAAAGAACCATCAAGAAATAGGGACCTGGATTTTATTTGC

Wildtype AA sequence

MGTWILFACL LGAAFAMPVL TPLKWYQSIR PPYPSYGYEP MGGWLHHQII PVLSQQHPPT
HTLQPHHHIP VVPAQQPVIP QQPMMPVPGQ HSMTPIQHHQ PNLPPPAQQP YQPQPVQPQP
HQPMQPQPPV HPMQPLPPQP PLPPMFPMQP LPPMLPDLTL EAWPSTDKTK REEVD*

Mutated AA sequence

MPVLTPLKWY QSIRPPYPSY GYEPMGGWLH HQIIPVLSQQ HPPTHTLQPH HHIPVVPAQQ
PVIPQQPMMP VPGQHSMTPI QHHQPNLPPP AQQPYQPQPV QPQPHQPMQP QPPVHPMQPL
PPQPPLPPMF PMQPLPPMLP DLTLEAWPST DKTKREEVD*

Position of stopcodon in wt / mu CDS

528 / 480

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

176 / 160

Position of stopcodon in wt / mu cDNA

596 / 548

Position of start ATG in wt / mu cDNA

69 / 117

Last intron/exon boundary

590

Theoretical NMD boundary in CDS

471

Length of CDS

528

Coding sequence (CDS) position

3

cDNA position

71

gDNA position

1379

Chromosomal position

11294791

Speed

0.41 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:

23:11294791G>A_4_ENST00000380736

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:11294791G>A (GRCh38)

Gene symbol

ARHGAP6

Gene constraints

no data

Ensembl transcript ID

ENST00000380736.5

Genbank transcript ID

NM_001287242 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-21-40084C>T
g.371130C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons

?

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

N/A

AA sequence altered

N/A

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCAAATAAAATCCAGGTCCCCATTTCTTGATGGTTCTGAAA

Altered gDNA sequence snippet

GCAAATAAAATCCAGGTCCCTATTTCTTGATGGTTCTGAAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSGRSVRLRS VPIQSLSELE RARLQEVAFY QLQQDCDLSC QITIPKDGQK RKKSLRKKLD
SLGKEKNKDK EFIPQAFGMP LSQVIANDRA YKLKQDLQRD EQKDASDFVA SLLPFGNKRQ
NKELSSSNSS LSSTSETPNE STSPNTPEPA PRARRRGAMS VDSITDLDDN QSRLLEALQL
SLPAEAQSKK EKARDKKLSL NPIYRQVPRL VDSCCQHLEK HGLQTVGIFR VGSSKKRVRQ
LREEFDRGID VSLEEEHSVH DVAALLKEFL RDMPDPLLTR ELYTAFINTL LLEPEEQLGT
LQLLIYLLPP CNCDTLHRLL QFLSIVARHA DDNISKDGQE VTGNKMTSLN LATIFGPNLL
HKQKSSDKEF SVQSSARAEE STAIIAVVQK MIENYEALFM VPPDLQNEVL ISLLETDPDV
VDYLLRRKAS QSSSPDMLQS EVSFSVGGRH SSTDSNKASS GDISPYDNNS PVLSERSLLA
MQEDAAPGGS EKLYRVPGQF MLVGHLSSSK SRESSPGPRL GKDLSEEPFD IWGTWHSTLK
SGSKDPGMTG SSGDIFESSS LRAGPCSLSQ GNLSPNWPRW QGSPAELDSD TQGARRTQAA
APATEGRAHP AVSRACSTPH VQVAGKAERP TARSEQYLTL SGAHDLSESE LDVAGLQSRA
TPQCQRPHGS GRDDKRPPPP YPGPGKPAAA AAWIQGPPEG VETPTDQGGQ AAEREQQVTQ
KKLSSANSLP AGEQDSPRLG DAGWLDWQRE RWQIWELLST DNPDALPETL V*

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

248 / 248

Last intron/exon boundary

1895

Theoretical NMD boundary in CDS

1597

Length of CDS

2316

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

371130

Chromosomal position

11294791

Speed

0.02 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:

23:11294791G>A_5_ENST00000337414

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:11294791G>A (GRCh38)

Gene symbol

ARHGAP6

Gene constraints

no data

Ensembl transcript ID

ENST00000337414.9

Genbank transcript ID

NM_013427 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.589-40084C>T
g.371130C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons

?

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

N/A

AA sequence altered

N/A

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCAAATAAAATCCAGGTCCCCATTTCTTGATGGTTCTGAAA

Altered gDNA sequence snippet

GCAAATAAAATCCAGGTCCCTATTTCTTGATGGTTCTGAAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE AGAEGSARGA
TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC SSFSTPSTPQ EKSPSGSFHF
DYEVPLGRGG LKKSMAWDLP SVLAGPASSR SASSILCSSG GGPNGIFASP RRWLQQRKFQ
SPPDSRGHPY VVWKSEGDFT WNSMSGRSVR LRSVPIQSLS ELERARLQEV AFYQLQQDCD
LSCQITIPKD GQKRKKSLRK KLDSLGKEKN KDKEFIPQAF GMPLSQVIAN DRAYKLKQDL
QRDEQKDASD FVASLLPFGN KRQNKELSSS NSSLSSTSET PNESTSPNTP EPAPRARRRG
AMSVDSITDL DDNQSRLLEA LQLSLPAEAQ SKKEKARDKK LSLNPIYRQV PRLVDSCCQH
LEKHGLQTVG IFRVGSSKKR VRQLREEFDR GIDVSLEEEH SVHDVAALLK EFLRDMPDPL
LTRELYTAFI NTLLLEPEEQ LGTLQLLIYL LPPCNCDTLH RLLQFLSIVA RHADDNISKD
GQEVTGNKMT SLNLATIFGP NLLHKQKSSD KEFSVQSSAR AEESTAIIAV VQKMIENYEA
LFMVPPDLQN EVLISLLETD PDVVDYLLRR KASQSSSPDM LQSEVSFSVG GRHSSTDSNK
ASSGDISPYD NNSPVLSERS LLAMQEDAAP GGSEKLYRVP GQFMLVGHLS SSKSRESSPG
PRLGKDLSEE PFDIWGTWHS TLKSGSKDPG MTGSSGDIFE SSSLRAGPCS LSQGNLSPNW
PRWQGSPAEL DSDTQGARRT QAAAPATEGR AHPAVSRACS TPHVQVAGKA ERPTARSEQY
LTLSGAHDLS ESELDVAGLQ SRATPQCQRP HGSGRDDKRP PPPYPGPGKP AAAAAWIQGP
PEGVETPTDQ GGQAAEREQQ VTQKKLSSAN SLPAGEQDSP RLGDAGWLDW QRERWQIWEL
LSTDNPDALP ETLV*

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

1093 / 1093

Last intron/exon boundary

3349

Theoretical NMD boundary in CDS

2206

Length of CDS

2925

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

371130

Chromosomal position

11294791

Speed

0.02 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:

23:11294791G>A_6_ENST00000380718

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:11294791G>A (GRCh38)

Gene symbol

ARHGAP6

Gene constraints

no data

Ensembl transcript ID

ENST00000380718.1

Genbank transcript ID

NM_006125 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.589-40084C>T
g.371130C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons

?

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

N/A

AA sequence altered

N/A

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCAAATAAAATCCAGGTCCCCATTTCTTGATGGTTCTGAAA

Altered gDNA sequence snippet

GCAAATAAAATCCAGGTCCCTATTTCTTGATGGTTCTGAAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE AGAEGSARGA
TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC SSFSTPSTPQ EKSPSGSFHF
DYEVPLGRGG LKKSMAWDLP SVLAGPASSR SASSILCSSG GGPNGIFASP RRWLQQRKFQ
SPPDSRGHPY VVWKSEGDFT WNSMSGRSVR LRSVPIQSLS ELERARLQEV AFYQLQQDCD
LSCQITIPKD GQKRKKSLRK KLDSLGKEKN KDKEFIPQAF GMPLSQVIAN DRAYKLKQDL
QRDEQKDASD FVASLLPFGN KRQNKELSSS NSSLSSTSET PNESTSPNTP EPAPRARRRG
AMSVDSITDL DDNQSRLLEA LQLSLPAEAQ SKKEKARDKK LSLNPIYRQV PRLVDSCCQH
LEKHGLQTVG IFRVGSSKKR VRQLREEFDR GIDVSLEEEH SVHDVAALLK EFLRDMPDPL
LTRELYTAFI NTLLLEPEEQ LGTLQLLIYL LPPCNCDTLH RLLQFLSIVA RHADDNISKD
GQEVTGNKMT SLNLATIFGP NLLHKQKSSD KEFSVQSSAR AEESTAIIAV VQKMIENYEA
LFMVPPDLQN EVLISLLETD PDVVDYLLRR KASQSSSPDM LQSEVSFSVG GRHSSTDSNK
ASSGDISPYD NNSPVLSERS LLAMQEDAAP GGSEKLYRVP GQFMLVGHLS SSKSRESSPG
PRLGKGNWSL ASRRWPKQAT LLLLHVAWCG ALRTFSSSLP YLMFL*

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

874 / 874

Last intron/exon boundary

2780

Theoretical NMD boundary in CDS

1856

Length of CDS

2298

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

371130

Chromosomal position

11294791

Speed

0.02 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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