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: ENST00000328300
Querying Taster for transcript #2: ENST00000361603
MT speed 0.22 s - this script 2.76565 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000361603	COL4A5	Deleterious	8\|2	complex_aae		No			G1264Vfs*35	Deletion		NMD	Amino acid sequence changed Frameshift NMD Protein features (might be) affected Splice site lost
ENST00000328300(MANE Select)	COL4A5	Deleterious	8\|2	complex_aae		No			G1264Vfs*41	Deletion		NMD	Amino acid sequence changed Frameshift NMD Protein features (might be) affected Splice site lost

MutationT@ster 2025

Variant:

23:108668503AG>A_2_ENST00000361603

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
NMD
Protein features (might be) affected
Splice site lost

Model: complex_aae
Tree vote: 8|2 (del | benign) ?
Automatic classification due to NMD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108668504delG (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

Deletion

Gene region

CDS

DNA changes

c.3790delG
g.228667delG

AA changes

G1264Vfs*35

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		1264	N	P	G	P	Q	G	P	P	G	R	P	G	L	P	G	P	E	G	P	P	G	L	P	G	N	G	G	I	K	G	E	K	G	N	P	G	Q	P	G	L	P	G	L	P	G	L	K	G	D	Q	G	P	P	G	L	Q	G	N	P	G	R	P	G	L	N	G	M	K	G	D	P	G	L	P	G	V	P	G	F	P	G	M	K	G	P	S	G	V	P	G	S	A	G	P	E	G	E	P	G
mutated	partly conserved	1142	I	S	G	P	P	G	N	P	G	L	P	G	E	P	G	P	V	G	G	G	G	H	P	G	Q	P	G	P	P	G	E	K	G	K	P	G	Q	D	G	I	P	G	P	A	G	Q	K	G	E	P	G	Q	P	G	F	G	N	P	G	P	P	G	L	P	G	L	S	G	Q	K	G	D	G	G	L	P	G	I	P	G	N	P	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
1232	1273	COMPBIAS	Pro residues	lost
1394	1408	COMPBIAS	Pro residues	lost
1461	1467	STRAND		lost
1461	1685	DOMAIN	Collagen IV NC1	lost
1469	1472	STRAND		lost
1476	1476	DISULFID	Or C-1476 with C-1564	lost
1481	1494	STRAND		lost
1497	1500	STRAND		lost
1506	1508	HELIX		lost
1509	1509	DISULFID	Or C-1509 with C-1567	lost
1509	1512	STRAND		lost
1518	1521	STRAND		lost
1521	1521	DISULFID		lost
1523	1525	TURN		lost
1527	1530	STRAND		lost
1535	1540	STRAND		lost
1549	1549	CROSSLNK	S-Lysyl-methionine sulfilimine (Met-Lys)	lost
1554	1560	HELIX		lost
1563	1571	STRAND		lost
1573	1577	STRAND		lost
1579	1582	STRAND		lost
1586	1586	DISULFID	Or C-1586 with C-1678	lost
1590	1603	STRAND		lost
1605	1607	HELIX		lost
1609	1611	STRAND		lost
1617	1619	HELIX		lost
1620	1620	DISULFID	Or C-1620 with C-1681	lost
1620	1623	STRAND		lost
1629	1633	STRAND		lost
1632	1632	DISULFID		lost
1636	1639	STRAND		lost
1645	1650	STRAND		lost
1654	1656	HELIX		lost
1657	1659	STRAND		lost
1664	1666	STRAND		lost
1667	1667	CROSSLNK	S-Lysyl-methionine sulfilimine (Lys-Met)	lost
1668	1670	HELIX		lost
1672	1674	HELIX		lost
1677	1683	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor lost	228667	wt: 0.00 / mu: 0.00	-	wt: GGGAGACCAG\|gtatgtccgt mu: GGGAGACCAG\|tatgtccgtg

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

1

Original gDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGGTATGTCCGTGAGTGGTAGG

Altered gDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGTATGTCCGTGAGTGGTAGG

Original cDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGGTCTACCAGGTCCAGAAGGT

Altered cDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGTCTACCAGGTCCAGAAGGT

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 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
GRPVYQVQKV LQVSLEMEVL KERREIQANL GYLACLV*

Position of stopcodon in wt / mu CDS

5058 / 3894

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

1686 / 1298

Position of stopcodon in wt / mu cDNA

5260 / 4096

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

3789 / 3791

cDNA position

3991 / 3993

gDNA position

228666 / 228668

Chromosomal position

108668503 / 108668505

Speed

0.11 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:

23:108668503AG>A_1_ENST00000328300

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
NMD
Protein features (might be) affected
Splice site lost

Model: complex_aae
Tree vote: 8|2 (del | benign) ?
Automatic classification due to NMD
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:108668504delG (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

Deletion

Gene region

CDS

DNA changes

c.3790delG
g.228667delG

AA changes

G1264Vfs*41

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		1264	N	P	G	P	Q	G	P	P	G	R	P	G	P	T	G	F	Q	G	L	P	G	P	E	G	P	P	G	L	P	G	N	G	G	I	K	G	E	K	G	N	P	G	Q	P	G	L	P	G	L	P	G	L	K	G	D	Q	G	P	P	G	L	Q	G	N	P	G	R	P	G	L	N	G	M	K	G	D	P	G	L	P	G	V	P	G	F	P	G	M	K	G	P	S	G	V	P	G	S	A	G	P	E	G	E	P	G	L	I	G	P	P	G	P	P	G	L	P	G	P	S	G	Q	S	I	I	I	K	G	D	A	G	P	P	G	I	P	G	Q	P	G	L
mutated	partly conserved	1082	SIGLPGL	P	G	P	K	G	E	P	G	L	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	P	G	Y	P	G	N	P	G	I	K	G	S	V	G	D	P	G	L	P	G	L	P	G	T	P	G	A	K	G	Q	P	G	L	P	G	F	P	G	T	P	G	P	P	G	P	K	G	I	S	G	P	P	G	N	P	G	L	P	G	E	P	G	P	V	G	G	G	G	H	P	G	Q	P	G	P	P	G	E	K	-	-	-	G	K	P	G	Q	D	G
Ptroglodytes	all identical	1264									G	R	P	G	P	T	G	F	Q	G	L	P	G	P	E	G	P	P	G	L	P	G	N	G	G	I	K	G	E	K	G	N	P	G	Q	P	G	L	P	G	L	P	G	L	K	G	D	Q	G	P	P	G	L	Q	G	N	P	G	R	P	G	L	N	G	M	K	G	D	P	G	L	P	G	V	P	G	F	P	G	M	K	G	P	S	G	V	P	G	S	A	G	P	E	G	E	P	G	L	I	G	P	P	G	P	P	G	L	P	G	P	S	G	Q	S	I	I	I	K	G	D
Mmulatta	partly conserved	1264									G	R	P	G	P	T	G	F	Q	G	L	P	G	P	E	G	P	P	G	L	P	G	N	G	G	I	K	G	E	K	G	N	P	G	Q	P	G	L	P	G	L	P	G	L	K	G	D	Q	G	P	P	G	L	Q	G	N	P	G	R	P	G	L	N	G	M	K	G	D	P	G	L	P	G	V	P	G	F	P	G	M	K	G	P	S	G	I	P	G	S	A	G	P	E	G	E	P	G	L	T	G	P	P	G	P	P	G	L	P	G	P	S	G	Q	S	I	I	I	K	G	D
Fcatus	partly conserved	1262									G	R	P	G	P	T	G	F	Q	G	L	P	G	P	E	G	P	R	G	L	P	G	N	G	G	I	K	G	E	R	G	N	P	G	Q	P	G	Q	P	G	L	P	G	L	K	G	D	Q	G	P	P	G	L	Q	G	N	P	G	R	P	G	L	N	G	M	K	G	D	P	G	L	P	G	V	P	G	F	P	G	M	K	G	P	S	G	I	P	G	S	T	G	P	E	G	D	P	G	L	V	G	P	P	G	P	P	G	L	P	G	P	S	G	Q	S	I	I	I	K	G	D
Mmusculus	partly conserved	1264									G	R	P	G	P	P	G	F	Q	G	P	P	G	T	E	G	P	R	G	P	P	G	N	G	G	I	K	G	E	R	G	N	P	G	P	P	G	Q	P	G	L	P	G	L	K	G	D	Q	G	P	P	G	L	P	G	N	P	G	R	P	G	L	N	G	M	K	G	D	P	G	L	P	G	V	P	G	F	P	G	M	K	G	P	I	G	V	P	G	S	T	G	P	D	G	E	P	G	L	T	G	P	P	G	P	P	G	L	P	G	P	S	G	Q	S	I	V	I	K	G	D
Ggallus	partly conserved	1268										R	P	G	P	S	G	P	P	G	S	P	G	P	E	G	P	R	G	P	P	G	S	G	G	L	K	G	E	K	G	N	P	G	Q	P	G	P	P	G	L	T	G	Q	K	G	D	Q	G	P	P	G	R	Q	G	D	P	G	R	P	G	L	N	G	M	K	G	D	P	G	V	P	G	V	P	G	F	P	G	M	K	G	P	T	G	P	A	G	P	A	G	L	T	G	S	Q	G	L	P	G	P	P	G	P	P	G	L	P	G	T	I	G	R	S	I	V	V	K	G	D	P
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
1232	1273	COMPBIAS	Pro residues	lost
1394	1408	COMPBIAS	Pro residues	lost
1461	1467	STRAND		lost
1461	1685	DOMAIN	Collagen IV NC1	lost
1469	1472	STRAND		lost
1476	1476	DISULFID	Or C-1476 with C-1564	lost
1481	1494	STRAND		lost
1497	1500	STRAND		lost
1506	1508	HELIX		lost
1509	1509	DISULFID	Or C-1509 with C-1567	lost
1509	1512	STRAND		lost
1518	1521	STRAND		lost
1521	1521	DISULFID		lost
1523	1525	TURN		lost
1527	1530	STRAND		lost
1535	1540	STRAND		lost
1549	1549	CROSSLNK	S-Lysyl-methionine sulfilimine (Met-Lys)	lost
1554	1560	HELIX		lost
1563	1571	STRAND		lost
1573	1577	STRAND		lost
1579	1582	STRAND		lost
1586	1586	DISULFID	Or C-1586 with C-1678	lost
1590	1603	STRAND		lost
1605	1607	HELIX		lost
1609	1611	STRAND		lost
1617	1619	HELIX		lost
1620	1620	DISULFID	Or C-1620 with C-1681	lost
1620	1623	STRAND		lost
1629	1633	STRAND		lost
1632	1632	DISULFID		lost
1636	1639	STRAND		lost
1645	1650	STRAND		lost
1654	1656	HELIX		lost
1657	1659	STRAND		lost
1664	1666	STRAND		lost
1667	1667	CROSSLNK	S-Lysyl-methionine sulfilimine (Lys-Met)	lost
1668	1670	HELIX		lost
1672	1674	HELIX		lost
1677	1683	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor lost	228667	wt: 0.00 / mu: 0.00	-	wt: GGGAGACCAG\|gtatgtccgt mu: GGGAGACCAG\|tatgtccgtg

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

1

Original gDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGGTATGTCCGTGAGTGGTAGG

Altered gDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGTATGTCCGTGAGTGGTAGG

Original cDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGGTCCTACAGGTTTTCAAGGT

Altered cDNA sequence snippet

AAGGTCCTCCTGGGAGACCAGTCCTACAGGTTTTCAAGGT

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 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
GRPVLQVFKV YQVQKVLQVS LEMEVLKERR EIQANLGYLA CLV*

Position of stopcodon in wt / mu CDS

5076 / 3912

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

1692 / 1304

Position of stopcodon in wt / mu cDNA

5364 / 4200

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

3789 / 3791

cDNA position

4077 / 4079

gDNA position

228666 / 228668

Chromosomal position

108668503 / 108668505

Speed

0.11 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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