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: ENST00000328300
Querying Taster for transcript #2: ENST00000483338
Querying Taster for transcript #3: ENST00000361603
MT speed 0.2 s - this script 2.657799 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000483338	COL4A5	Deleterious	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Known as potential disease variant: ClinVar ID 2155539 (likely pathogenic)
ENST00000328300(MANE Select)	COL4A5	Deleterious	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Known as potential disease variant: ClinVar ID 2155539 (likely pathogenic) Protein features (might be) affected
ENST00000361603	COL4A5	Deleterious	54\|46	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Known as potential disease variant: ClinVar ID 2155539 (likely pathogenic) Protein features (might be) affected

MutationT@ster 2025

Variant:

23:108598792G>C_2_ENST00000483338

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known as potential disease variant: ClinVar ID 2155539 (likely pathogenic)

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to ClinVar
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108598792G>C (GRCh38)

Gene symbol

COL4A5

Gene constraints

no data

Ensembl transcript ID

ENST00000483338.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.694G>C
g.158955G>C

AA changes

AAE:	G232R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

not provided

likely pathogenic

ClinVar

Variant DBs

	Not in dbSNP
gnomAD	homo-/hemizygous (C/C)	heterozygous	allele carriers
	1	2	3

Protein conservation

Species	Match	AA	Alignment
Human		232	L	P	G	N	I	G	P	M	G	P	P	G	F	G	P	P	G	P	V	G	E	K	G	I
mutated	not conserved	232	L	P	G	N	I	G	P	M	G	P	P	R	F	G	P	P	G	P	V	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

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?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

1

Original gDNA sequence snippet

TAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCA

Altered gDNA sequence snippet

TAGGGCCTATGGGTCCCCCTCGTTTCGGCCCTCCAGGCCCA

Original cDNA sequence snippet

TAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCA

Altered cDNA sequence snippet

TAGGGCCTATGGGTCCCCCTCGTTTCGGCCCTCCAGGCCCA

Wildtype AA sequence

MGPPGPPGFP GERGQKGDEG PPGISIPGPP GLDGQPGAPG LPGPPGPAGP HIPPSDEICE
PGPPGPPGSP GDKGLQGEQG VKGDKGDTCF NCIGTGISGP PGQPGLPGLP GPPGSLGFPG
QKGEKGQAGA TGPKGLPGIP GAPGAPGFPG SKGEPGDILT FPGMKGDKGE LGSPGAPGLP
GLPGTPGQDG LPGLPGPKGE PGGITFKGER GPPGNPGLPG LPGNIGPMGP PGFGPPGPVG
EKGIQGVAGN PGQPGIPGPK GDPGQTITQP GKPGLPGNPG RDGDVGLPGD PGLPGQPGLP
GIPGSKGEPG IPGIGLPGPP GPKGFPGIPG PPGAPGTPGR IGLEGPPGPP GFPGPKGEPG
FALPGPPGPP GLPGFKGALG PKGDRGFPGP PGPPGRTGLD GLPGPKGDVG PNGQPGPMGP
PGLPGIGVQG PPGPPGIPGP IGQPGLHGIP GEKGDPGPPG LDVPGPPGER GSPGIPGAPG
PIGPPGSPGL PGKAGASGFP GTKGEMGMMG PPGPPGPLGI PGRSGVPGLK GDDGLQGQPG
LPGPTGEKGS KGEPGLPGPP GPMDPNLLGS KGEKGEPGLP GIPGVSGPKG YQGLPGDPGQ
PGLSGQPGLP GPPGPKGNPG LPGQPGLIGP PGLKGTIGDM GFPGPQGVEG PPGPSGVPGQ
PGSPGLPGQK GDKGDPGISS IGLPGLPGPK VIFGI*

Mutated AA sequence

MGPPGPPGFP GERGQKGDEG PPGISIPGPP GLDGQPGAPG LPGPPGPAGP HIPPSDEICE
PGPPGPPGSP GDKGLQGEQG VKGDKGDTCF NCIGTGISGP PGQPGLPGLP GPPGSLGFPG
QKGEKGQAGA TGPKGLPGIP GAPGAPGFPG SKGEPGDILT FPGMKGDKGE LGSPGAPGLP
GLPGTPGQDG LPGLPGPKGE PGGITFKGER GPPGNPGLPG LPGNIGPMGP PRFGPPGPVG
EKGIQGVAGN PGQPGIPGPK GDPGQTITQP GKPGLPGNPG RDGDVGLPGD PGLPGQPGLP
GIPGSKGEPG IPGIGLPGPP GPKGFPGIPG PPGAPGTPGR IGLEGPPGPP GFPGPKGEPG
FALPGPPGPP GLPGFKGALG PKGDRGFPGP PGPPGRTGLD GLPGPKGDVG PNGQPGPMGP
PGLPGIGVQG PPGPPGIPGP IGQPGLHGIP GEKGDPGPPG LDVPGPPGER GSPGIPGAPG
PIGPPGSPGL PGKAGASGFP GTKGEMGMMG PPGPPGPLGI PGRSGVPGLK GDDGLQGQPG
LPGPTGEKGS KGEPGLPGPP GPMDPNLLGS KGEKGEPGLP GIPGVSGPKG YQGLPGDPGQ
PGLSGQPGLP GPPGPKGNPG LPGQPGLIGP PGLKGTIGDM GFPGPQGVEG PPGPSGVPGQ
PGSPGLPGQK GDKGDPGISS IGLPGLPGPK VIFGI*

Position of stopcodon in wt / mu CDS

2088 / 2088

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

696 / 696

Position of stopcodon in wt / mu cDNA

2720 / 2720

Position of start ATG in wt / mu cDNA

633 / 633

Last intron/exon boundary

2562

Theoretical NMD boundary in CDS

1879

Length of CDS

2088

Coding sequence (CDS) position

694

cDNA position

1326

gDNA position

158955

Chromosomal position

108598792

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

Back to summary table

MutationT@ster 2025

Variant:

23:108598792G>C_1_ENST00000328300

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known as potential disease variant: ClinVar ID 2155539 (likely pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to ClinVar
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108598792G>C (GRCh38)

Gene symbol

COL4A5

Gene constraints

no data

Ensembl transcript ID

ENST00000328300.11

Genbank transcript ID

NM_033380 (exact from MANE)

UniProt / AlphaMissense peptide

CO4A5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1870G>C
g.158955G>C

AA changes

AAE:	G624R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

not provided

likely pathogenic

ClinVar

Variant DBs

	Not in dbSNP
gnomAD	homo-/hemizygous (C/C)	heterozygous	allele carriers
	1	2	3

Protein conservation

Species	Match	AA	Alignment
Human		624	L	P	G	N	I	G	P	M	G	P	P	G	F	G	P	P	G	P	V	G	E	K	G	I
mutated	not conserved	624	L	P	G	N	I	G	P	M	G	P	P	R	F	G	P	P	G	P	V	G	E	K	G
Ptroglodytes	all identical	624	L	P	G	N	I	G	P	M	G	P	P	G	F	G	P	P	G	P	V	G	E	K	G
Mmulatta	all identical	624	L	P	G	N	I	G	P	M	G	P	P	G	F	G	P	P	G	P	V	G	E	K	G
Fcatus	all identical	624	L	P	G	N	R	G	P	M	G	P	V	G	F	G	P	P	G	P	V	G	E	K	G
Mmusculus	all identical	624	L	P	G	N	M	G	P	T	G	P	V	G	F	G	P	P	G	P	I	G	E	K	G
Ggallus	all identical	628	L	P	G	D	K	G	L	P	G	P	P	G	F	G	P	Q	G	S	P	G	E	K	G
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
27	1685	CHAIN		lost
42	1456	REGION	Triple-helical region	lost
49	1459	REGION		lost
607	629	COMPBIAS	Pro residues	lost

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?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

1

Original gDNA sequence snippet

TAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCA

Altered gDNA sequence snippet

TAGGGCCTATGGGTCCCCCTCGTTTCGGCCCTCCAGGCCCA

Original cDNA sequence snippet

TAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCA

Altered cDNA sequence snippet

TAGGGCCTATGGGTCCCCCTCGTTTCGGCCCTCCAGGCCCA

Wildtype AA sequence

MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG
LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG
IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG
IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP
PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN
IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG
PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT
CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF
PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT
QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI
PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP
GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG
IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL
GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI
GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG
PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG
NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP
GRPGPTGFQG LPGPEGPPGL PGNGGIKGEK GNPGQPGLPG LPGLKGDQGP PGLQGNPGRP
GLNGMKGDPG LPGVPGFPGM KGPSGVPGSA GPEGEPGLIG PPGPPGLPGP SGQSIIIKGD
AGPPGIPGQP GLKGLPGPQG PQGLPGPTGP PGDPGRNGLP GFDGAGGRKG DPGLPGQPGT
RGLDGPPGPD GLQGPPGPPG TSSVAHGFLI TRHSQTTDAP QCPQGTLQVY EGFSLLYVQG
NKRAHGQDLG TAGSCLRRFS TMPFMFCNIN NVCNFASRND YSYWLSTPEP MPMSMQPLKG
QSIQPFISRC AVCEAPAVVI AVHSQTIQIP HCPQGWDSLW IGYSFMMHTS AGAEGSGQAL
ASPGSCLEEF RSAPFIECHG RGTCNYYANS YSFWLATVDV SDMFSKPQSE TLKAGDLRTR
ISRCQVCMKR T*

Mutated AA sequence

MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG
LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG
IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG
IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP
PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN
IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG
PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT
CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF
PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
ERGPPGNPGL PGLPGNIGPM GPPRFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT
QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI
PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP
GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG
IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL
GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI
GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG
PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG
NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP
GRPGPTGFQG LPGPEGPPGL PGNGGIKGEK GNPGQPGLPG LPGLKGDQGP PGLQGNPGRP
GLNGMKGDPG LPGVPGFPGM KGPSGVPGSA GPEGEPGLIG PPGPPGLPGP SGQSIIIKGD
AGPPGIPGQP GLKGLPGPQG PQGLPGPTGP PGDPGRNGLP GFDGAGGRKG DPGLPGQPGT
RGLDGPPGPD GLQGPPGPPG TSSVAHGFLI TRHSQTTDAP QCPQGTLQVY EGFSLLYVQG
NKRAHGQDLG TAGSCLRRFS TMPFMFCNIN NVCNFASRND YSYWLSTPEP MPMSMQPLKG
QSIQPFISRC AVCEAPAVVI AVHSQTIQIP HCPQGWDSLW IGYSFMMHTS AGAEGSGQAL
ASPGSCLEEF RSAPFIECHG RGTCNYYANS YSFWLATVDV SDMFSKPQSE TLKAGDLRTR
ISRCQVCMKR T*

Position of stopcodon in wt / mu CDS

5076 / 5076

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

1692 / 1692

Position of stopcodon in wt / mu cDNA

5364 / 5364

Position of start ATG in wt / mu cDNA

289 / 289

Last intron/exon boundary

5282

Theoretical NMD boundary in CDS

4943

Length of CDS

5076

Coding sequence (CDS) position

1870

cDNA position

2158

gDNA position

158955

Chromosomal position

108598792

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:

23:108598792G>C_3_ENST00000361603

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known as potential disease variant: ClinVar ID 2155539 (likely pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 54|46 (del | benign) ?
Automatic classification due to ClinVar
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108598792G>C (GRCh38)

Gene symbol

COL4A5

Gene constraints

no data

Ensembl transcript ID

ENST00000361603.7

Genbank transcript ID

NM_000495 (by similarity)

UniProt / AlphaMissense peptide

CO4A5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1870G>C
g.158955G>C

AA changes

AAE:	G624R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

not provided

likely pathogenic

ClinVar

Variant DBs

	Not in dbSNP
gnomAD	homo-/hemizygous (C/C)	heterozygous	allele carriers
	1	2	3

Protein conservation

Species	Match	AA	Alignment
Human		624	L	P	G	N	I	G	P	M	G	P	P	G	F	G	P	P	G	P	V	G	E	K	G	I
mutated	not conserved	624	L	P	G	N	I	G	P	M	G	P	P	R	F	G	P	P	G	P	V	G	E	K	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
27	1685	CHAIN		lost
42	1456	REGION	Triple-helical region	lost
49	1459	REGION		lost
607	629	COMPBIAS	Pro residues	lost

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?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

1

Original gDNA sequence snippet

TAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCA

Altered gDNA sequence snippet

TAGGGCCTATGGGTCCCCCTCGTTTCGGCCCTCCAGGCCCA

Original cDNA sequence snippet

TAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCA

Altered cDNA sequence snippet

TAGGGCCTATGGGTCCCCCTCGTTTCGGCCCTCCAGGCCCA

Wildtype AA sequence

MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG
LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG
IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG
IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP
PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN
IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG
PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT
CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF
PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT
QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI
PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP
GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG
IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL
GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI
GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG
PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG
NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP
GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG DQGPPGLQGN PGRPGLNGMK
GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP GLIGPPGPPG LPGPSGQSII IKGDAGPPGI
PGQPGLKGLP GPQGPQGLPG PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP
PGPDGLQGPP GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ PLKGQSIQPF
ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM MHTSAGAEGS GQALASPGSC
LEEFRSAPFI ECHGRGTCNY YANSYSFWLA TVDVSDMFSK PQSETLKAGD LRTRISRCQV
CMKRT*

Mutated AA sequence

MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG
LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG
IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG
IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP
PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN
IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG
PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT
CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF
PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
ERGPPGNPGL PGLPGNIGPM GPPRFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT
QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI
PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP
GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG
IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL
GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI
GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG
PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG
NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP
GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG DQGPPGLQGN PGRPGLNGMK
GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP GLIGPPGPPG LPGPSGQSII IKGDAGPPGI
PGQPGLKGLP GPQGPQGLPG PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP
PGPDGLQGPP GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ PLKGQSIQPF
ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM MHTSAGAEGS GQALASPGSC
LEEFRSAPFI ECHGRGTCNY YANSYSFWLA TVDVSDMFSK PQSETLKAGD LRTRISRCQV
CMKRT*

Position of stopcodon in wt / mu CDS

5058 / 5058

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

1686 / 1686

Position of stopcodon in wt / mu cDNA

5260 / 5260

Position of start ATG in wt / mu cDNA

203 / 203

Last intron/exon boundary

5178

Theoretical NMD boundary in CDS

4925

Length of CDS

5058

Coding sequence (CDS) position

1870

cDNA position

2072

gDNA position

158955

Chromosomal position

108598792

Speed

0.08 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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