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: ENST00000538570
Querying Taster for transcript #2: ENST00000394872
Querying Taster for transcript #3: ENST00000334504
Querying Taster for transcript #4: ENST00000372216
Querying Taster for transcript #5: ENST00000621266
MT speed 0.11 s - this script 2.510442 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000538570	COL4A6	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000394872	COL4A6	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000334504(MANE Select)	COL4A6	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000372216	COL4A6	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000621266	COL4A6	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

23:108178968C>T_1_ENST00000538570

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108178968C>T (GRCh38)

Gene symbol

COL4A6

Gene constraints

no data

Ensembl transcript ID

ENST00000538570.5

Genbank transcript ID

NM_001287760 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2354-123G>A
g.260530G>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	rs150847883
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	3462	8646	12108

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

AAAGACTGGGTTACGGCTGGGAATAGCAACAAGGCTGGAGC

Altered gDNA sequence snippet

AAAGACTGGGTTACGGCTGGAAATAGCAACAAGGCTGGAGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHPGLWLLLV TLCLTEELAA AGEKSYGKPC GGQDCSGSCQ CFPEKGARGR PGPIGIQGPT
GPQGFTGSTG LSGLKGERGF PGLLGPYGPK GDKGPMGVPG FLGINGIPGH PGQPGPRGPP
GLDGCNGTQG AVGFPGPDGY PGLLGPPGLP GQKGSKGDPV LAPGSFKGMK GDPGLPGLDG
ITGPQGAPGF PGAVGPAGPP GLQGPPGPPG PLGPDGNMGL GFQGEKGVKG DVGLPGPAGP
PPSTGELEFM GFPKGKKGSK GEPGPKGFPG ISGPPGFPGL GTTGEKGEKG EKGIPGLPGP
RGPMGSEGVQ GPPGQQGKKG TLGFPGLNGF QGIEGQKGDI GLPGPDVFID IDGAVISGNP
GDPGVPGLPG LKGDEGIQGL RGPSGVPGLP ALSGVPGALG PQGFPGLKGD QGNPGRTTIG
AAGLPGRDGL PGPPGPPGPP SPEFETETLH NKESGFPGLR GEQGPKGNLG LKGIKGDSGF
CACDGGVPNT GPPGEPGPPG PWGLIGLPGL KGARGDRGSG GAQGPAGAPG LVGPLGPSGP
KGKKGEPILS TIQGMPGDRG DSGSQGFRGV IGEPGKDGVP GLPGLPGLPG DGGQGFPGEK
GLPGLPGEKG HPGPPGLPGN GLPGLPGPRG LPGDKGKDGL PGQQGLPGSK GITLPCIIPG
SYGPSGFPGT PGFPGPKGSR GLPGTPGQPG SSGSKGEPGS PGLVHLPELP GFPGPRGEKG
LPGFPGLPGK DGLPGMIGSP GLPGSKGATG DIFGAENGAP GEQGLQGLTG HKGFLGDSGL
PGLKGVHGKP GLLGPKGERG SPGTPGQVGQ PGTPGSSGPY GIKGKSGLPG APGFPGISGH
PGKKGTRGKK GPPGSIVKKG LPGLKGLPGN PGLVGLKGSP GSPGVAGLPA LSGPKGEKGS
VGFVGFPGIP GLPGIPGTRG LKGIPGSTGK MGPSGRAGTP GEKGDRGNPG PVGIPSPRRP
MSNLWLKGDK GSQGSAGSNG FPGPRGDKGE AGRPGPPGLP GAPGLPGIIK GVSGKPGPPG
FMGIRGLPGL KGSSGITGFP GMPGESGSQG IRGSPGLPGA SGLPGLKGDN GQTVEISGSP
GPKGQPGESG FKGTKGRDGL IGNIGFPGNK GEDGKVGVSG DVGLPGAPGF PGVAGMRGEP
GLPGSSGHQG AIGPLGSPGL IGPKGPSITG VPGPAGLPGP KGEKGYPGIG IGAPGKPGLR
GQKGDRGFPG LQGPAGLPGA PGISLPSLIA GQPGDPGRPG LDGERGRPGP AGPPGPPGPS
SNQGDTGDPG FPGIPGPKGP KGDQGIPGFS GLPGELGLKG SSGLQGDPGQ TPTAEAVQVP
PGPLGLPGID GIPGLTGDPG AQGPVGLQGS KGLPGIPGKD GPSGLPGPPG ALGDPGLPGL
QGPPGFEGAP GQQGPFGMPG MPGQSMRVGY TLVKHSQSEQ VPPCPIGMSQ LWVGYSLLFV
EGQEKAHNQD LGFAGSCLPR FSTMPFIYCN INEVCHYARR NDKSYWLSTT APIPMMPVSQ
TQIPQYISRC SVCEAPSQAI AVHSQDITIP QCPLGWRSLW IGYSFLMHTA AGAEGGGQSL
VSPGSCLEDF RATPFIECSG ARGTCHYFAN KYSFWLTTVE ERQQFGELPV SETLKAGQLH
TRVSRCQVCM KSL*

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

235 / 235

Last intron/exon boundary

4875

Theoretical NMD boundary in CDS

4590

Length of CDS

4902

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

260530

Chromosomal position

108178968

Speed

0.03 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:

23:108178968C>T_2_ENST00000394872

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108178968C>T (GRCh38)

Gene symbol

COL4A6

Gene constraints

no data

Ensembl transcript ID

ENST00000394872.6

Genbank transcript ID

NM_001287758 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2405-123G>A
g.260530G>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	rs150847883
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	3462	8646	12108

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

AAAGACTGGGTTACGGCTGGGAATAGCAACAAGGCTGGAGC

Altered gDNA sequence snippet

AAAGACTGGGTTACGGCTGGAAATAGCAACAAGGCTGGAGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHPGLWLLLV TLCLTEELAA AGEKSYGKPC GGQDCSGSCQ CFPEKGARGR PGPIGIQGPT
GPQGFTGSTG LSGLKGERGF PGLLGPYGPK GDKGPMGVPG FLGINGIPGH PGQPGPRGPP
GLDGCNGTQG AVGFPGPDGY PGLLGPPGLP GQKGSKGDPV LAPGSFKGMK GDPGLPGLDG
ITGPQGAPGF PGAVGPAGPP GLQGPPGPPG PLGPDGNMGL GFQGEKGVKG DVGLPGPAGP
PPSTGELEFM GFPKGKKGSK GEPGPKGFPG ISGPPGFPGL GTTGEKGEKG EKGIPGLPGP
RGPMGSEGVQ GPPGQQGKKG TLGFPGLNGF QGIEGQKGDI GLPGPDVFID IDGAVISGNP
GDPGVPGLPG LKGDEGIQGL RGPSGVPGLP ALSGVPGALG PQGFPGLKGD QGNPGRTTIG
AAGLPGRDGL PGPPGPPGPP SPEFETETLH NKESGFPGLR GEQGPKGNLG LKGIKGDSGF
CACDGGVPNT GPPGEPGPPG PWGLIGLPGL KGARGDRGSG GAQGPAGAPG LVGPLGPSGP
KGKKGEPILS TIQGMPGDRG DSGSQGFRGV IGEPGKDGVP GLPGLPGLPG DGGQGFPGEK
GLPGLPGEKG HPGPPGLPGN GLPGLPGPRG LPGDKGKDGL PGQQGLPGSK GDCCCREVGK
GDLDTERGIT LPCIIPGSYG PSGFPGTPGF PGPKGSRGLP GTPGQPGSSG SKGEPGSPGL
VHLPELPGFP GPRGEKGLPG FPGLPGKDGL PGMIGSPGLP GSKGATGDIF GAENGAPGEQ
GLQGLTGHKG FLGDSGLPGL KGVHGKPGLL GPKGERGSPG TPGQVGQPGT PGSSGPYGIK
GKSGLPGAPG FPGISGHPGK KGTRGKKGPP GSIVKKGLPG LKGLPGNPGL VGLKGSPGSP
GVAGLPALSG PKGEKGSVGF VGFPGIPGLP GIPGTRGLKG IPGSTGKMGP SGRAGTPGEK
GDRGNPGPVG IPSPRRPMSN LWLKGDKGSQ GSAGSNGFPG PRGDKGEAGR PGPPGLPGAP
GLPGIIKGVS GKPGPPGFMG IRGLPGLKGS SGITGFPGMP GESGSQGIRG SPGLPGASGL
PGLKGDNGQT VEISGSPGPK GQPGESGFKG TKGRDGLIGN IGFPGNKGED GKVGVSGDVG
LPGAPGFPGV AGMRGEPGLP GSSGHQGAIG PLGSPGLIGP KGFPGFPGLH GLNGLPGTKG
THGTPGPSIT GVPGPAGLPG PKGEKGYPGI GIGAPGKPGL RGQKGDRGFP GLQGPAGLPG
APGISLPSLI AGQPGDPGRP GLDGERGRPG PAGPPGPPGP SSNQGDTGDP GFPGIPGPKG
PKGDQGIPGF SGLPGELGLK GMRGEPGFMG TPGKVGPPGD PGFPGMKGKA GPRGSSGLQG
DPGQTPTAEA VQVPPGPLGL PGIDGIPGLT GDPGAQGPVG LQGSKGLPGI PGKDGPSGLP
GPPGALGDPG LPGLQGPPGF EGAPGQQGPF GMPGMPGQSM RVGYTLVKHS QSEQVPPCPI
GMSQLWVGYS LLFVEGQEKA HNQDLGFAGS CLPRFSTMPF IYCNINEVCH YARRNDKSYW
LSTTAPIPMM PVSQTQIPQY ISRCSVCEAP SQAIAVHSQD ITIPQCPLGW RSLWIGYSFL
MHTAAGAEGG GQSLVSPGSC LEDFRATPFI ECSGARGTCH YFANKYSFWL TTVEERQQFG
ELPVSETLKA GQLHTRVSRC QVCMKSL*

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

235 / 235

Last intron/exon boundary

5097

Theoretical NMD boundary in CDS

4812

Length of CDS

5124

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

260530

Chromosomal position

108178968

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:

23:108178968C>T_3_ENST00000334504

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108178968C>T (GRCh38)

Gene symbol

COL4A6

Gene constraints

no data

Ensembl transcript ID

ENST00000334504.12

Genbank transcript ID

NM_033641 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2354-123G>A
g.260530G>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	rs150847883
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	3462	8646	12108

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

AAAGACTGGGTTACGGCTGGGAATAGCAACAAGGCTGGAGC

Altered gDNA sequence snippet

AAAGACTGGGTTACGGCTGGAAATAGCAACAAGGCTGGAGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHPGLWLLLV TLCLTEELAA AGEKSYGKPC GGQDCSGSCQ CFPEKGARGR PGPIGIQGPT
GPQGFTGSTG LSGLKGERGF PGLLGPYGPK GDKGPMGVPG FLGINGIPGH PGQPGPRGPP
GLDGCNGTQG AVGFPGPDGY PGLLGPPGLP GQKGSKGDPV LAPGSFKGMK GDPGLPGLDG
ITGPQGAPGF PGAVGPAGPP GLQGPPGPPG PLGPDGNMGL GFQGEKGVKG DVGLPGPAGP
PPSTGELEFM GFPKGKKGSK GEPGPKGFPG ISGPPGFPGL GTTGEKGEKG EKGIPGLPGP
RGPMGSEGVQ GPPGQQGKKG TLGFPGLNGF QGIEGQKGDI GLPGPDVFID IDGAVISGNP
GDPGVPGLPG LKGDEGIQGL RGPSGVPGLP ALSGVPGALG PQGFPGLKGD QGNPGRTTIG
AAGLPGRDGL PGPPGPPGPP SPEFETETLH NKESGFPGLR GEQGPKGNLG LKGIKGDSGF
CACDGGVPNT GPPGEPGPPG PWGLIGLPGL KGARGDRGSG GAQGPAGAPG LVGPLGPSGP
KGKKGEPILS TIQGMPGDRG DSGSQGFRGV IGEPGKDGVP GLPGLPGLPG DGGQGFPGEK
GLPGLPGEKG HPGPPGLPGN GLPGLPGPRG LPGDKGKDGL PGQQGLPGSK GITLPCIIPG
SYGPSGFPGT PGFPGPKGSR GLPGTPGQPG SSGSKGEPGS PGLVHLPELP GFPGPRGEKG
LPGFPGLPGK DGLPGMIGSP GLPGSKGATG DIFGAENGAP GEQGLQGLTG HKGFLGDSGL
PGLKGVHGKP GLLGPKGERG SPGTPGQVGQ PGTPGSSGPY GIKGKSGLPG APGFPGISGH
PGKKGTRGKK GPPGSIVKKG LPGLKGLPGN PGLVGLKGSP GSPGVAGLPA LSGPKGEKGS
VGFVGFPGIP GLPGIPGTRG LKGIPGSTGK MGPSGRAGTP GEKGDRGNPG PVGIPSPRRP
MSNLWLKGDK GSQGSAGSNG FPGPRGDKGE AGRPGPPGLP GAPGLPGIIK GVSGKPGPPG
FMGIRGLPGL KGSSGITGFP GMPGESGSQG IRGSPGLPGA SGLPGLKGDN GQTVEISGSP
GPKGQPGESG FKGTKGRDGL IGNIGFPGNK GEDGKVGVSG DVGLPGAPGF PGVAGMRGEP
GLPGSSGHQG AIGPLGSPGL IGPKGFPGFP GLHGLNGLPG TKGTHGTPGP SITGVPGPAG
LPGPKGEKGY PGIGIGAPGK PGLRGQKGDR GFPGLQGPAG LPGAPGISLP SLIAGQPGDP
GRPGLDGERG RPGPAGPPGP PGPSSNQGDT GDPGFPGIPG PKGPKGDQGI PGFSGLPGEL
GLKGMRGEPG FMGTPGKVGP PGDPGFPGMK GKAGPRGSSG LQGDPGQTPT AEAVQVPPGP
LGLPGIDGIP GLTGDPGAQG PVGLQGSKGL PGIPGKDGPS GLPGPPGALG DPGLPGLQGP
PGFEGAPGQQ GPFGMPGMPG QSMRVGYTLV KHSQSEQVPP CPIGMSQLWV GYSLLFVEGQ
EKAHNQDLGF AGSCLPRFST MPFIYCNINE VCHYARRNDK SYWLSTTAPI PMMPVSQTQI
PQYISRCSVC EAPSQAIAVH SQDITIPQCP LGWRSLWIGY SFLMHTAAGA EGGGQSLVSP
GSCLEDFRAT PFIECSGARG TCHYFANKYS FWLTTVEERQ QFGELPVSET LKAGQLHTRV
SRCQVCMKSL *

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

227 / 227

Last intron/exon boundary

5038

Theoretical NMD boundary in CDS

4761

Length of CDS

5073

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

260530

Chromosomal position

108178968

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:

23:108178968C>T_4_ENST00000372216

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108178968C>T (GRCh38)

Gene symbol

COL4A6

Gene constraints

no data

Ensembl transcript ID

ENST00000372216.8

Genbank transcript ID

NM_001847 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2357-123G>A
g.260530G>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	rs150847883
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	3462	8646	12108

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

AAAGACTGGGTTACGGCTGGGAATAGCAACAAGGCTGGAGC

Altered gDNA sequence snippet

AAAGACTGGGTTACGGCTGGAAATAGCAACAAGGCTGGAGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLINKLWLLL VTLCLTEELA AAGEKSYGKP CGGQDCSGSC QCFPEKGARG RPGPIGIQGP
TGPQGFTGST GLSGLKGERG FPGLLGPYGP KGDKGPMGVP GFLGINGIPG HPGQPGPRGP
PGLDGCNGTQ GAVGFPGPDG YPGLLGPPGL PGQKGSKGDP VLAPGSFKGM KGDPGLPGLD
GITGPQGAPG FPGAVGPAGP PGLQGPPGPP GPLGPDGNMG LGFQGEKGVK GDVGLPGPAG
PPPSTGELEF MGFPKGKKGS KGEPGPKGFP GISGPPGFPG LGTTGEKGEK GEKGIPGLPG
PRGPMGSEGV QGPPGQQGKK GTLGFPGLNG FQGIEGQKGD IGLPGPDVFI DIDGAVISGN
PGDPGVPGLP GLKGDEGIQG LRGPSGVPGL PALSGVPGAL GPQGFPGLKG DQGNPGRTTI
GAAGLPGRDG LPGPPGPPGP PSPEFETETL HNKESGFPGL RGEQGPKGNL GLKGIKGDSG
FCACDGGVPN TGPPGEPGPP GPWGLIGLPG LKGARGDRGS GGAQGPAGAP GLVGPLGPSG
PKGKKGEPIL STIQGMPGDR GDSGSQGFRG VIGEPGKDGV PGLPGLPGLP GDGGQGFPGE
KGLPGLPGEK GHPGPPGLPG NGLPGLPGPR GLPGDKGKDG LPGQQGLPGS KGITLPCIIP
GSYGPSGFPG TPGFPGPKGS RGLPGTPGQP GSSGSKGEPG SPGLVHLPEL PGFPGPRGEK
GLPGFPGLPG KDGLPGMIGS PGLPGSKGAT GDIFGAENGA PGEQGLQGLT GHKGFLGDSG
LPGLKGVHGK PGLLGPKGER GSPGTPGQVG QPGTPGSSGP YGIKGKSGLP GAPGFPGISG
HPGKKGTRGK KGPPGSIVKK GLPGLKGLPG NPGLVGLKGS PGSPGVAGLP ALSGPKGEKG
SVGFVGFPGI PGLPGIPGTR GLKGIPGSTG KMGPSGRAGT PGEKGDRGNP GPVGIPSPRR
PMSNLWLKGD KGSQGSAGSN GFPGPRGDKG EAGRPGPPGL PGAPGLPGII KGVSGKPGPP
GFMGIRGLPG LKGSSGITGF PGMPGESGSQ GIRGSPGLPG ASGLPGLKGD NGQTVEISGS
PGPKGQPGES GFKGTKGRDG LIGNIGFPGN KGEDGKVGVS GDVGLPGAPG FPGVAGMRGE
PGLPGSSGHQ GAIGPLGSPG LIGPKGFPGF PGLHGLNGLP GTKGTHGTPG PSITGVPGPA
GLPGPKGEKG YPGIGIGAPG KPGLRGQKGD RGFPGLQGPA GLPGAPGISL PSLIAGQPGD
PGRPGLDGER GRPGPAGPPG PPGPSSNQGD TGDPGFPGIP GPKGPKGDQG IPGFSGLPGE
LGLKGMRGEP GFMGTPGKVG PPGDPGFPGM KGKAGPRGSS GLQGDPGQTP TAEAVQVPPG
PLGLPGIDGI PGLTGDPGAQ GPVGLQGSKG LPGIPGKDGP SGLPGPPGAL GDPGLPGLQG
PPGFEGAPGQ QGPFGMPGMP GQSMRVGYTL VKHSQSEQVP PCPIGMSQLW VGYSLLFVEG
QEKAHNQDLG FAGSCLPRFS TMPFIYCNIN EVCHYARRND KSYWLSTTAP IPMMPVSQTQ
IPQYISRCSV CEAPSQAIAV HSQDITIPQC PLGWRSLWIG YSFLMHTAAG AEGGGQSLVS
PGSCLEDFRA TPFIECSGAR GTCHYFANKY SFWLTTVEER QQFGELPVSE TLKAGQLHTR
VSRCQVCMKS L*

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

102 / 102

Last intron/exon boundary

4916

Theoretical NMD boundary in CDS

4764

Length of CDS

5076

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

260530

Chromosomal position

108178968

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:

23:108178968C>T_5_ENST00000621266

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108178968C>T (GRCh38)

Gene symbol

COL4A6

Gene constraints

no data

Ensembl transcript ID

ENST00000621266.4

Genbank transcript ID

NM_001287759 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2354-123G>A
g.260530G>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	rs150847883
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	3462	8646	12108

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

AAAGACTGGGTTACGGCTGGGAATAGCAACAAGGCTGGAGC

Altered gDNA sequence snippet

AAAGACTGGGTTACGGCTGGAAATAGCAACAAGGCTGGAGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHPGLWLLLV TLCLTEELAA AGEKSYGKPC GGQDCSGSCQ CFPEKGARGR PGPIGIQGPT
GPQGFTGSTG LSGLKGERGF PGLLGPYGPK GDKGPMGVPG FLGINGIPGH PGQPGPRGPP
GLDGCNGTQG AVGFPGPDGY PGLLGPPGLP GQKGSKGDPV LAPGSFKGMK GDPGLPGLDG
ITGPQGAPGF PGAVGPAGPP GLQGPPGPPG PLGPDGNMGL GFQGEKGVKG DVGLPGPAGP
PPSTGELEFM GFPKGKKGSK GEPGPKGFPG ISGPPGFPGL GTTGEKGEKG EKGIPGLPGP
RGPMGSEGVQ GPPGQQGKKG TLGFPGLNGF QGIEGQKGDI GLPGPDVFID IDGAVISGNP
GDPGVPGLPG LKGDEGIQGL RGPSGVPGLP ALSGVPGALG PQGFPGLKGD QGNPGRTTIG
AAGLPGRDGL PGPPGPPGPP SPEFETETLH NKESGFPGLR GEQGPKGNLG LKGIKGDSGF
CACDGGVPNT GPPGEPGPPG PWGLIGLPGL KGARGDRGSG GAQGPAGAPG LVGPLGPSGP
KGKKGEPILS TIQGMPGDRG DSGSQGFRGV IGEPGKDGVP GLPGLPGLPG DGGQGFPGEK
GLPGLPGEKG HPGPPGLPGN GLPGLPGPRG LPGDKGKDGL PGQQGLPGSK GITLPCIIPG
SYGPSGFPGT PGFPGPKGSR GLPGTPGQPG SSGSKGEPGS PGLVHLPELP GFPGPRGEKG
LPGFPGLPGK DGLPGMIGSP GLPGSKGATG DIFGAENGAP GEQGLQGLTG HKGFLGDSGL
PGLKGVHGKP GLLGPKGERG SPGTPGQVGQ PGTPGSSGPY GIKGKSGLPG APGFPGISGH
PGKKGTRGKK GPPGSIVKKG LPGLKGLPGN PGLVGLKGSP GSPGVAGLPA LSGPKGEKGS
VGFVGFPGIP GLPGIPGTRG LKGIPGSTGK MGPSGRAGTP GEKGDRGNPG PVGIPSPRRP
MSNLWLKGDK GSQGSAGSNG FPGPRGDKGE AGRPGPPGLP GAPGLPGIIK GVSGKPGPPG
FMGIRGLPGL KGSSGITGFP GMPGESGSQG IRGSPGLPGA SGLPGLKGDN GQTVEISGSP
GPKGQPGESG FKGTKGRDGL IGNIGFPGNK GEDGKVGVSG DVGLPGAPGF PGVAGMRGEP
GLPGSSGHQG AIGPLGSPGL IGPKGPSITG VPGPAGLPGP KGEKGYPGIG IGAPGKPGLR
GQKGDRGFPG LQGPAGLPGA PGISLPSLIA GQPGDPGRPG LDGERGRPGP AGPPGPPGPS
SNQGDTGDPG FPGIPGPKGP KGDQGIPGFS GLPGELGLKG MRGEPGFMGT PGKVGPPGDP
GFPGMKGKAG PRGSSGLQGD PGQTPTAEAV QVPPGPLGLP GIDGIPGLTG DPGAQGPVGL
QGSKGLPGIP GKDGPSGLPG PPGALGDPGL PGLQGPPGFE GAPGQQGPFG MPGMPGQSMR
VGYTLVKHSQ SEQVPPCPIG MSQLWVGYSL LFVEGQEKAH NQDLGFAGSC LPRFSTMPFI
YCNINEVCHY ARRNDKSYWL STTAPIPMMP VSQTQIPQYI SRCSVCEAPS QAIAVHSQDI
TIPQCPLGWR SLWIGYSFLM HTAAGAEGGG QSLVSPGSCL EDFRATPFIE CSGARGTCHY
FANKYSFWLT TVEERQQFGE LPVSETLKAG QLHTRVSRCQ VCMKSL*

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

235 / 235

Last intron/exon boundary

4974

Theoretical NMD boundary in CDS

4689

Length of CDS

5001

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

260530

Chromosomal position

108178968

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