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: ENST00000380518
Querying Taster for transcript #2: ENST00000337299
MT speed 0.16 s - this script 2.689932 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
ENST00000337299	COL2A1	Deleterious	10\|0	complex_aae		No	Yes		G102Vfs*28	Deletion		NMD	Amino acid sequence changed Frameshift Known disease mutation: ClinVar ID 1074466 (pathogenic) NMD Protein features (might be) affected
ENST00000380518(MANE Select)	COL2A1	Deleterious	10\|0	complex_aae		No	Yes		G171Vfs*28	Deletion		NMD	Amino acid sequence changed Frameshift Known disease mutation: ClinVar ID 1074466 (pathogenic) NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

12:47997626CA>C_2_ENST00000337299

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 1074466 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr12:47997627delA (GRCh38)

Gene symbol

COL2A1

Gene constraints

LOEUF: 0.19, LOF (oe): 0.14, misssense (oe): 0.68, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000337299.7

Genbank transcript ID

NM_033150 (by similarity)

UniProt / AlphaMissense peptide

CO2A1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.303delT
g.6928delT

AA changes

G102Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

not provided

pathogenic

ClinVar

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		102	N	P	G	P	P	G	P	P	G	P	P	G	P	P	G	L	G	G	N	F	A	A	Q	M	A
mutated	partly conserved	102	N	P	G	P	P	G	P	P	G	P	P	V	P
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
26	181	PROPEP	N-terminal propeptide	lost
97	1237	REGION		lost
133	149	COMPBIAS	Basic and acidic residues	lost
157	174	COMPBIAS	Pro residues	lost
181	182	SITE	Cleavage; by procollagen N-endopeptidase	lost
182	1241	CHAIN		lost
190	190	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
190	190	MOD_RES	5-hydroxylysine	lost
201	1214	REGION	Triple-helical region	lost
237	251	COMPBIAS	Pro residues	lost
287	287	MOD_RES	5-hydroxylysine	lost
287	287	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
299	299	MOD_RES	5-hydroxylysine	lost
299	299	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
308	308	MOD_RES	5-hydroxylysine	lost
308	308	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
351	365	COMPBIAS	Pro residues	lost
374	374	MOD_RES	5-hydroxylysine	lost
374	374	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
432	446	COMPBIAS	Pro residues	lost
487	489	HELIX		lost
608	608	MOD_RES	5-hydroxylysine	lost
608	608	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
620	620	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
620	620	MOD_RES	5-hydroxylysine	lost
659	659	MOD_RES	4-hydroxyproline	lost
668	668	MOD_RES	4-hydroxyproline	lost
670	670	MOD_RES	3-hydroxyproline	lost
671	671	MOD_RES	4-hydroxyproline	lost
674	674	MOD_RES	4-hydroxyproline	lost
907	907	MOD_RES	3-hydroxyproline	lost
908	908	MOD_RES	4-hydroxyproline	lost
910	924	COMPBIAS	Pro residues	lost
914	914	MOD_RES	4-hydroxyproline	lost
920	920	MOD_RES	4-hydroxyproline	lost
1130	1130	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
1130	1130	MOD_RES	5-hydroxylysine	lost
1144	1144	MOD_RES	3-hydroxyproline	lost
1181	1181	MOD_RES	4-hydroxyproline	lost
1186	1186	MOD_RES	3-hydroxyproline	lost
1187	1187	MOD_RES	4-hydroxyproline	lost
1200	1217	COMPBIAS	Pro residues	lost
1201	1201	MOD_RES	3-hydroxyproline	lost
1202	1202	MOD_RES	4-hydroxyproline	lost
1205	1205	MOD_RES	4-hydroxyproline	lost
1207	1207	MOD_RES	3-hydroxyproline	lost
1208	1208	MOD_RES	4-hydroxyproline	lost
1211	1211	MOD_RES	4-hydroxyproline	lost
1213	1213	MOD_RES	3-hydroxyproline	lost
1214	1214	MOD_RES	4-hydroxyproline	lost
1215	1241	REGION		lost
1241	1242	SITE	Cleavage; by procollagen C-endopeptidase	lost
1242	1487	CHAIN		lost
1253	1487	DOMAIN	Fibrillar collagen NC1	lost
1283	1283	DISULFID		lost
1289	1289	DISULFID		lost
1301	1301	BINDING	Ca(2+)	lost
1303	1303	BINDING	Ca(2+)	lost
1304	1304	BINDING	Ca(2+)	lost
1306	1306	BINDING	Ca(2+)	lost
1306	1306	DISULFID		lost
1309	1309	BINDING	Ca(2+)	lost
1323	1323	DISULFID		lost
1388	1388	CARBOHYD	N-linked (GlcNAc...) asparagine	lost
1393	1393	DISULFID		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.029	0.148
	-1.207	0.001
(flanking)	9.643	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCTGGTCCCCCTGGTCTTGGTGG

Altered gDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCGGTCCCCCTGGTCTTGGTGG

Original cDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCTGGTCCCCCTGGTCTTGGTGG

Altered cDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCGGTCCCCCTGGTCTTGGTGG

Wildtype AA sequence

MIRLGAPQTL VLLTLLVAAV LRCQGQDVRQ PGPKGQKGEP GDIKDIVGPK GPPGPQGPAG
EQGPRGDRGD KGEKGAPGPR GRDGEPGTPG NPGPPGPPGP PGPPGLGGNF AAQMAGGFDE
KAGGAQLGVM QGPMGPMGPR GPPGPAGAPG PQGFQGNPGE PGEPGVSGPM GPRGPPGPPG
KPGDDGEAGK PGKAGERGPP GPQGARGFPG TPGLPGVKGH RGYPGLDGAK GEAGAPGVKG
ESGSPGENGS PGPMGPRGLP GERGRTGPAG AAGARGNDGQ PGPAGPPGPV GPAGGPGFPG
APGAKGEAGP TGARGPEGAQ GPRGEPGTPG SPGPAGASGN PGTDGIPGAK GSAGAPGIAG
APGFPGPRGP PGPQGATGPL GPKGQTGEPG IAGFKGEQGP KGEPGPAGPQ GAPGPAGEEG
KRGARGEPGG VGPIGPPGER GAPGNRGFPG QDGLAGPKGA PGERGPSGLA GPKGANGDPG
RPGEPGLPGA RGLTGRPGDA GPQGKVGPSG APGEDGRPGP PGPQGARGQP GVMGFPGPKG
ANGEPGKAGE KGLPGAPGLR GLPGKDGETG AAGPPGPAGP AGERGEQGAP GPSGFQGLPG
PPGPPGEGGK PGDQGVPGEA GAPGLVGPRG ERGFPGERGS PGAQGLQGPR GLPGTPGTDG
PKGASGPAGP PGAQGPPGLQ GMPGERGAAG IAGPKGDRGD VGEKGPEGAP GKDGGRGLTG
PIGPPGPAGA NGEKGEVGPP GPAGSAGARG APGERGETGP PGPAGFAGPP GADGQPGAKG
EQGEAGQKGD AGAPGPQGPS GAPGPQGPTG VTGPKGARGA QGPPGATGFP GAAGRVGPPG
SNGNPGPPGP PGPSGKDGPK GARGDSGPPG RAGEPGLQGP AGPPGEKGEP GDDGPSGAEG
PPGPQGLAGQ RGIVGLPGQR GERGFPGLPG PSGEPGKQGA PGASGDRGPP GPVGPPGLTG
PAGEPGREGS PGADGPPGRD GAAGVKGDRG ETGAVGAPGA PGPPGSPGPA GPTGKQGDRG
EAGAQGPMGP SGPAGARGIQ GPQGPRGDKG EAGEPGERGL KGHRGFTGLQ GLPGPPGPSG
DQGASGPAGP SGPRGPPGPV GPSGKDGANG IPGPIGPPGP RGRSGETGPA GPPGNPGPPG
PPGPPGPGID MSAFAGLGPR EKGPDPLQYM RADQAAGGLR QHDAEVDATL KSLNNQIESI
RSPEGSRKNP ARTCRDLKLC HPEWKSGDYW IDPNQGCTLD AMKVFCNMET GETCVYPNPA
NVPKKNWWSS KSKEKKHIWF GETINGGFHF SYGDDNLAPN TANVQMTFLR LLSTEGSQNI
TYHCKNSIAY LDEAAGNLKK ALLIQGSNDV EIRAEGNSRF TYTALKDGCT KHTGKWGKTV
IEYRSQKTSR LPIIDIAPMD IGGPEQEFGV DIGPVCFL*

Mutated AA sequence

MIRLGAPQTL VLLTLLVAAV LRCQGQDVRQ PGPKGQKGEP GDIKDIVGPK GPPGPQGPAG
EQGPRGDRGD KGEKGAPGPR GRDGEPGTPG NPGPPGPPGP PVPLVLVETL LPRWLEDLMK
RLVAPSWE*

Position of stopcodon in wt / mu CDS

4257 / 387

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

1419 / 129

Position of stopcodon in wt / mu cDNA

4442 / 572

Position of start ATG in wt / mu cDNA

186 / 186

Last intron/exon boundary

4295

Theoretical NMD boundary in CDS

4059

Length of CDS

4257

Coding sequence (CDS) position

302 / 304

cDNA position

487 / 489

gDNA position

6927 / 6929

Chromosomal position

47997626 / 47997628

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:

12:47997626CA>C_1_ENST00000380518

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 1074466 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr12:47997627delA (GRCh38)

Gene symbol

COL2A1

Gene constraints

LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.67, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000380518.8

Genbank transcript ID

NM_001844 (exact from MANE)

UniProt / AlphaMissense peptide

CO2A1_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.510delT
g.6928delT

AA changes

G171Vfs*28

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

not provided

pathogenic

ClinVar

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		171	N	P	G	P	P	G	P	P	G	P	P	G	P	P	G	L	G	G	N	F	A	A	Q	M	A	G	G	F	D	E	K	A	G	G	A	Q	L	G	V	M	Q	G	P	M	G	P	M	G	P	R	G	P	P	G	P	A	G	A	P	G	P	Q	G	F	Q	G	N	P	G	E	P	G	E	P	G	V	S	G	P	M	G	P	R	G	P	P	G	P	P	G	K	P	G	D	D	G
mutated	partly conserved	171	N	P	G	P	P	G	P	P	G	P	P	V	P
Ptroglodytes	all identical	171	N	P	G	P	P	G	P	P	G	P	P	G	P	P	G	L	G	G	N	F	A	A	Q	M	A	G	G	F	D	E	K	A	G	G	A	Q	L	G	V	M	Q	G	P	M	G	P	M	G	P	R	G	P	P	G	P	A	G	A	P	G	P	Q	G	F	Q	G	N	P	G	E	P	G	E	P	G	V	S	G	P	M	G
Mmulatta	all conserved	171	N	P	G	P	P	G	P	P	G	P	P	G	P	P	G	L	G	G	N	F	A	A	Q	M	A	G	G	F	D	E	K	A	G	G	A	Q	M	G	V	M	Q	G	P	M	G	P	M	G	P	R	G	P	P	G	P	A	G	A	P	G	P	Q	G	F	Q	G	N	P	G	E	P	G	E	P	G	V	S	G	P	M	G
Fcatus	all conserved	171	N	P	G	P	P	G	P	P	G	P	P	G	P	P	G	L	G	G	N	F	A	A	Q	M	A	G	G	F	D	E	K	A	G	G	A	Q	M	G	V	M	Q	G	P	M	G	P	M	G	P	R	G	P	P	G	P	A	G	A	P	G	P	Q	G	F	Q	G	N	P	G	E	P	G	E	P	G	V	S	G	P	M	G
Mmusculus	partly conserved	170	N	P	G	P	A	G	P	P	G	P	P	G	P	P	G	L	SA	G	N	F	A	A	Q	M	A	G	G	Y	D	E	K	A	G	G	A	Q	M	G	V	M	Q	G	P	M	G	P	M	G	P	R	G	P	P	G	P	A	G	A	P	G	P	Q	G	F	Q	G	N	P	G	E	P	G	E	P	G	V	S	G	P	M
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	173	N	P	G	P	V	G	P	P	G	P	P	G	P	P	G	L	G	G	N	F	A	A	Q	M	T	G	G	F	D	E	K	A	G	G	A	Q	M	G	V	M	Q	G	P	M	G	P	M	G	P	R	G	P	P	G	P	T	G	A	P	G	P	Q	G	F	Q	G	N	P	G	E	P	G	E	P	G	A	G	G	P	M	G	P	R	G

Protein features

Start (aa)	End (aa)	Feature	Details
26	181	PROPEP	N-terminal propeptide	lost
97	1237	REGION		lost
157	174	COMPBIAS	Pro residues	lost
181	182	SITE	Cleavage; by procollagen N-endopeptidase	lost
182	1241	CHAIN		lost
190	190	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
190	190	MOD_RES	5-hydroxylysine	lost
201	1214	REGION	Triple-helical region	lost
237	251	COMPBIAS	Pro residues	lost
287	287	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
287	287	MOD_RES	5-hydroxylysine	lost
299	299	MOD_RES	5-hydroxylysine	lost
299	299	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
308	308	MOD_RES	5-hydroxylysine	lost
308	308	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
351	365	COMPBIAS	Pro residues	lost
374	374	MOD_RES	5-hydroxylysine	lost
374	374	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
432	446	COMPBIAS	Pro residues	lost
487	489	HELIX		lost
608	608	MOD_RES	5-hydroxylysine	lost
608	608	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
620	620	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
620	620	MOD_RES	5-hydroxylysine	lost
659	659	MOD_RES	4-hydroxyproline	lost
668	668	MOD_RES	4-hydroxyproline	lost
670	670	MOD_RES	3-hydroxyproline	lost
671	671	MOD_RES	4-hydroxyproline	lost
674	674	MOD_RES	4-hydroxyproline	lost
907	907	MOD_RES	3-hydroxyproline	lost
908	908	MOD_RES	4-hydroxyproline	lost
910	924	COMPBIAS	Pro residues	lost
914	914	MOD_RES	4-hydroxyproline	lost
920	920	MOD_RES	4-hydroxyproline	lost
1130	1130	CARBOHYD	O-linked (Gal...) hydroxylysine	lost
1130	1130	MOD_RES	5-hydroxylysine	lost
1144	1144	MOD_RES	3-hydroxyproline	lost
1181	1181	MOD_RES	4-hydroxyproline	lost
1186	1186	MOD_RES	3-hydroxyproline	lost
1187	1187	MOD_RES	4-hydroxyproline	lost
1200	1217	COMPBIAS	Pro residues	lost
1201	1201	MOD_RES	3-hydroxyproline	lost
1202	1202	MOD_RES	4-hydroxyproline	lost
1205	1205	MOD_RES	4-hydroxyproline	lost
1207	1207	MOD_RES	3-hydroxyproline	lost
1208	1208	MOD_RES	4-hydroxyproline	lost
1211	1211	MOD_RES	4-hydroxyproline	lost
1213	1213	MOD_RES	3-hydroxyproline	lost
1214	1214	MOD_RES	4-hydroxyproline	lost
1215	1241	REGION		lost
1241	1242	SITE	Cleavage; by procollagen C-endopeptidase	lost
1242	1487	CHAIN		lost
1253	1487	DOMAIN	Fibrillar collagen NC1	lost
1283	1283	DISULFID		lost
1289	1289	DISULFID		lost
1301	1301	BINDING	Ca(2+)	lost
1303	1303	BINDING	Ca(2+)	lost
1304	1304	BINDING	Ca(2+)	lost
1306	1306	BINDING	Ca(2+)	lost
1306	1306	DISULFID		lost
1309	1309	BINDING	Ca(2+)	lost
1323	1323	DISULFID		lost
1388	1388	CARBOHYD	N-linked (GlcNAc...) asparagine	lost
1393	1393	DISULFID		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.029	0.148
	-1.207	0.001
(flanking)	9.643	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCTGGTCCCCCTGGTCTTGGTGG

Altered gDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCGGTCCCCCTGGTCTTGGTGG

Original cDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCTGGTCCCCCTGGTCTTGGTGG

Altered cDNA sequence snippet

CCTGGTCCTCCCGGCCCCCCGGTCCCCCTGGTCTTGGTGG

Wildtype AA sequence

MIRLGAPQTL VLLTLLVAAV LRCQGQDVQE AGSCVQDGQR YNDKDVWKPE PCRICVCDTG
TVLCDDIICE DVKDCLSPEI PFGECCPICP TDLATASGQP GPKGQKGEPG DIKDIVGPKG
PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG RDGEPGTPGN PGPPGPPGPP GPPGLGGNFA
AQMAGGFDEK AGGAQLGVMQ GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG
PRGPPGPPGK PGDDGEAGKP GKAGERGPPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG
EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP GPAGPPGPVG
PAGGPGFPGA PGAKGEAGPT GARGPEGAQG PRGEPGTPGS PGPAGASGNP GTDGIPGAKG
SAGAPGIAGA PGFPGPRGPP GPQGATGPLG PKGQTGEPGI AGFKGEQGPK GEPGPAGPQG
APGPAGEEGK RGARGEPGGV GPIGPPGERG APGNRGFPGQ DGLAGPKGAP GERGPSGLAG
PKGANGDPGR PGEPGLPGAR GLTGRPGDAG PQGKVGPSGA PGEDGRPGPP GPQGARGQPG
VMGFPGPKGA NGEPGKAGEK GLPGAPGLRG LPGKDGETGA AGPPGPAGPA GERGEQGAPG
PSGFQGLPGP PGPPGEGGKP GDQGVPGEAG APGLVGPRGE RGFPGERGSP GAQGLQGPRG
LPGTPGTDGP KGASGPAGPP GAQGPPGLQG MPGERGAAGI AGPKGDRGDV GEKGPEGAPG
KDGGRGLTGP IGPPGPAGAN GEKGEVGPPG PAGSAGARGA PGERGETGPP GPAGFAGPPG
ADGQPGAKGE QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG
AAGRVGPPGS NGNPGPPGPP GPSGKDGPKG ARGDSGPPGR AGEPGLQGPA GPPGEKGEPG
DDGPSGAEGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP SGEPGKQGAP GASGDRGPPG
PVGPPGLTGP AGEPGREGSP GADGPPGRDG AAGVKGDRGE TGAVGAPGAP GPPGSPGPAG
PTGKQGDRGE AGAQGPMGPS GPAGARGIQG PQGPRGDKGE AGEPGERGLK GHRGFTGLQG
LPGPPGPSGD QGASGPAGPS GPRGPPGPVG PSGKDGANGI PGPIGPPGPR GRSGETGPAG
PPGNPGPPGP PGPPGPGIDM SAFAGLGPRE KGPDPLQYMR ADQAAGGLRQ HDAEVDATLK
SLNNQIESIR SPEGSRKNPA RTCRDLKLCH PEWKSGDYWI DPNQGCTLDA MKVFCNMETG
ETCVYPNPAN VPKKNWWSSK SKEKKHIWFG ETINGGFHFS YGDDNLAPNT ANVQMTFLRL
LSTEGSQNIT YHCKNSIAYL DEAAGNLKKA LLIQGSNDVE IRAEGNSRFT YTALKDGCTK
HTGKWGKTVI EYRSQKTSRL PIIDIAPMDI GGPEQEFGVD IGPVCFL*

Mutated AA sequence

MIRLGAPQTL VLLTLLVAAV LRCQGQDVQE AGSCVQDGQR YNDKDVWKPE PCRICVCDTG
TVLCDDIICE DVKDCLSPEI PFGECCPICP TDLATASGQP GPKGQKGEPG DIKDIVGPKG
PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG RDGEPGTPGN PGPPGPPGPP VPLVLVETLL
PRWLEDLMKR LVAPSWE*

Position of stopcodon in wt / mu CDS

4464 / 594

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

1488 / 198

Position of stopcodon in wt / mu cDNA

4619 / 749

Position of start ATG in wt / mu cDNA

156 / 156

Last intron/exon boundary

4472

Theoretical NMD boundary in CDS

4266

Length of CDS

4464

Coding sequence (CDS) position

509 / 511

cDNA position

664 / 666

gDNA position

6927 / 6929

Chromosomal position

47997626 / 47997628

Speed

0.09 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