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: ENST00000320755
Querying Taster for transcript #2: ENST00000683980
Querying Taster for transcript #3: ENST00000357250
Querying Taster for transcript #4: ENST00000683758
MT speed 1.36 s - this script 3.833034 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000357250(MANE Select)	COL9A1	Deleterious	81\|19	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000683980	COL9A1	Deleterious	93\|7	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000320755	COL9A1	Deleterious	93\|7	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000683758	COL9A1	Deleterious	167\|33	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

6:70234894C>T_3_ENST00000357250

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 81|19 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:70234894C>T (GRCh38)

Gene symbol

COL9A1

Gene constraints

LOEUF: 0.89, LOF (oe): 0.75, misssense (oe): 0.99, synonymous (oe): 1.14 ? (gnomAD)

Ensembl transcript ID

ENST00000357250.11

Genbank transcript ID

NM_001851 (exact from MANE)

UniProt / AlphaMissense peptide

CO9A1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2159G>A
g.68191G>A

AA changes

AAE:	R720Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs192467838
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	864	865

Protein conservation

Species	Match	AA	Alignment
Human		720	G	E	P	G	L	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	R	G	P	P
mutated	all conserved	720	G	E	P	G	L	R	G	P	E	G	S	Q	G	L	P	G	V	E	G	P	R	G	P
Ptroglodytes	all identical	720	G	E	P	G	L	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	R	G	P
Mmulatta	all identical	720	G	E	P	G	L	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	R	G	P
Fcatus	all identical	720	G	D	P	G	L	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	R	G	P
Mmusculus	all identical	720	G	E	P	G	L	R	G	P	E	G	I	R	G	L	P	G	V	E	G	P	R	G	P
Ggallus	all identical	718	G	D	P	G	S	R	G	P	E	G	S	R	G	L	P	G	M	E	G	P	R	G	A
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	718	G	E	S	G	N	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	Q	G	S

Protein features

Start (aa)	End (aa)	Feature	Details
24	921	CHAIN		lost
254	759	REGION		lost
418	756	REGION	Triple-helical region	lost
713	755	DOMAIN	Collagen-like	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.194	0.984
	7.822	1
(flanking)	6.635	1

?

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

6

Strand

-1

Original gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Original cDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered cDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Wildtype AA sequence

MKTCWKIPVF FFVCSFLEPW ASAAVKRRPR FPVNSNSNGG NELCPKIRIG QDDLPGFDLI
SQFQVDKAAS RRAIQRVVGS ATLQVAYKLG NNVDFRIPTR NLYPSGLPEE YSFLTTFRMT
GSTLKKNWNI WQIQDSSGKE QVGIKINGQT QSVVFSYKGL DGSLQTAAFS NLSSLFDSQW
HKIMIGVERS SATLFVDCNR IESLPIKPRG PIDIDGFAVL GKLADNPQVS VPFELQWMLI
HCDPLRPRRE TCHELPARIT PSQTTDERGP PGEQGPPGPP GPPGVPGIDG IDGDRGPKGP
PGPPGPAGEP GKPGAPGKPG TPGADGLTGP DGSPGSIGSK GQKGEPGVPG SRGFPGRGIP
GPPGPPGTAG LPGELGRVGP VGDPGRRGPP GPPGPPGPRG TIGFHDGDPL CPNACPPGRS
GYPGLPGMRG HKGAKGEIGE PGRQGHKGEE GDQGELGEVG AQGPPGAQGL RGITGIVGDK
GEKGARGLDG EPGPQGLPGA PGDQGQRGPP GEAGPKGDRG AEGARGIPGL PGPKGDTGLP
GVDGRDGIPG MPGTKGEPGK PGPPGDAGLQ GLPGVPGIPG AKGVAGEKGS TGAPGKPGQM
GNSGKPGQQG PPGEVGPRGP QGLPGSRGEL GPVGSPGLPG KLGSLGSPGL PGLPGPPGLP
GMKGDRGVVG EPGPKGEQGA SGEEGEAGER GELGDIGLPG PKGSAGNPGE PGLRGPEGSR
GLPGVEGPRG PPGPRGVQGE QGATGLPGVQ GPPGRAPTDQ HIKQVCMRVI QEHFAEMAAS
LKRPDSGATG LPGRPGPPGP PGPPGENGFP GQMGIRGLPG IKGPPGALGL RGPKGDLGEK
GERGPPGRGP NGLPGAIGLP GDPGPASYGR NGRDGERGPP GVAGIPGVPG PPGPPGLPGF
CEPASCTMQA GQRAFNKGPD P*

Mutated AA sequence

MKTCWKIPVF FFVCSFLEPW ASAAVKRRPR FPVNSNSNGG NELCPKIRIG QDDLPGFDLI
SQFQVDKAAS RRAIQRVVGS ATLQVAYKLG NNVDFRIPTR NLYPSGLPEE YSFLTTFRMT
GSTLKKNWNI WQIQDSSGKE QVGIKINGQT QSVVFSYKGL DGSLQTAAFS NLSSLFDSQW
HKIMIGVERS SATLFVDCNR IESLPIKPRG PIDIDGFAVL GKLADNPQVS VPFELQWMLI
HCDPLRPRRE TCHELPARIT PSQTTDERGP PGEQGPPGPP GPPGVPGIDG IDGDRGPKGP
PGPPGPAGEP GKPGAPGKPG TPGADGLTGP DGSPGSIGSK GQKGEPGVPG SRGFPGRGIP
GPPGPPGTAG LPGELGRVGP VGDPGRRGPP GPPGPPGPRG TIGFHDGDPL CPNACPPGRS
GYPGLPGMRG HKGAKGEIGE PGRQGHKGEE GDQGELGEVG AQGPPGAQGL RGITGIVGDK
GEKGARGLDG EPGPQGLPGA PGDQGQRGPP GEAGPKGDRG AEGARGIPGL PGPKGDTGLP
GVDGRDGIPG MPGTKGEPGK PGPPGDAGLQ GLPGVPGIPG AKGVAGEKGS TGAPGKPGQM
GNSGKPGQQG PPGEVGPRGP QGLPGSRGEL GPVGSPGLPG KLGSLGSPGL PGLPGPPGLP
GMKGDRGVVG EPGPKGEQGA SGEEGEAGER GELGDIGLPG PKGSAGNPGE PGLRGPEGSQ
GLPGVEGPRG PPGPRGVQGE QGATGLPGVQ GPPGRAPTDQ HIKQVCMRVI QEHFAEMAAS
LKRPDSGATG LPGRPGPPGP PGPPGENGFP GQMGIRGLPG IKGPPGALGL RGPKGDLGEK
GERGPPGRGP NGLPGAIGLP GDPGPASYGR NGRDGERGPP GVAGIPGVPG PPGPPGLPGF
CEPASCTMQA GQRAFNKGPD P*

Position of stopcodon in wt / mu CDS

2766 / 2766

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

922 / 922

Position of stopcodon in wt / mu cDNA

2926 / 2926

Position of start ATG in wt / mu cDNA

161 / 161

Last intron/exon boundary

2741

Theoretical NMD boundary in CDS

2530

Length of CDS

2766

Coding sequence (CDS) position

2159

cDNA position

2319

gDNA position

68191

Chromosomal position

70234894

Speed

0.30 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:

6:70234894C>T_2_ENST00000683980

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 93|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:70234894C>T (GRCh38)

Gene symbol

COL9A1

Gene constraints

LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.94, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000683980.2

Genbank transcript ID

NM_001377289 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1460G>A
g.68191G>A

AA changes

AAE:	R487Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs192467838
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	864	865

Protein conservation

Species	Match	AA	Alignment
Human		487	G	E	P	G	L	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	R	G	P	P
mutated	all conserved	487						R	G	P	E	G	S	Q	G	L	P	G	V	E	G	P	R	G	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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.194	0.984
	7.822	1
(flanking)	6.635	1

?

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

6

Strand

-1

Original gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Original cDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered cDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Wildtype AA sequence

MAWTARDRGA LGLLLLGLCL CAAQRGPPGE QGPPGPPGPP GVPGIDGIDG DRGPKGPPGP
PGPAGEPGKP GAPGKPGTPG ADGLTGPDGS PGSIGSKGQK GEPGVPGSRG FPGRGIPGPP
GPPGTAGLPG ELGRVGPVGD PGRRGPPGPP GPPGPRGTIG FHDGDPLCPN ACPPGRSGYP
GLPGMRGHKG AKGEIGEPGR QGHKGEEGDQ GELGEVGAQG PPGAQGLRGI TGIVGDKGEK
GARGLDGEPG PQGLPGAPGD QGQRGPPGEA GPKGDRGAEG ARGIPGLPGP KGDTGLPGVD
GRDGIPGMPG TKELSKIALL MKGEPGKPGP PGDAGLQGLP GVPGIPGAKG VAGEKGSTGA
PGKPGQMGNS GKPGQQGPPG EVGPRGPQGL PGSRGELGPV GSPGLPGKLG SLGSPGLPGL
PGPPGLPGMK GDRGVVGEPG PKGEQGASGE EGEAGERGEL GDIGLPGPKG SAGNPGEPGL
RGPEGSRGLP GVEGPRGPPG PRGVQGEQGA TGLPGVQGPP GRAPTDQHIK QVCMRVIQEH
FAEMAASLKR PDSGATGLPG RPGPPGPPGP PGENGFPGQM GIRGLPGIKG PPGALGLRGP
KGDLGEKGER GPPGRGPNGL PGAIGLPGDP GPASYGRNGR DGERGPPGVA GIPGVPGPPG
PPGLPGFCEP ASCTMQAGQR AFNKGPDP*

Mutated AA sequence

MAWTARDRGA LGLLLLGLCL CAAQRGPPGE QGPPGPPGPP GVPGIDGIDG DRGPKGPPGP
PGPAGEPGKP GAPGKPGTPG ADGLTGPDGS PGSIGSKGQK GEPGVPGSRG FPGRGIPGPP
GPPGTAGLPG ELGRVGPVGD PGRRGPPGPP GPPGPRGTIG FHDGDPLCPN ACPPGRSGYP
GLPGMRGHKG AKGEIGEPGR QGHKGEEGDQ GELGEVGAQG PPGAQGLRGI TGIVGDKGEK
GARGLDGEPG PQGLPGAPGD QGQRGPPGEA GPKGDRGAEG ARGIPGLPGP KGDTGLPGVD
GRDGIPGMPG TKELSKIALL MKGEPGKPGP PGDAGLQGLP GVPGIPGAKG VAGEKGSTGA
PGKPGQMGNS GKPGQQGPPG EVGPRGPQGL PGSRGELGPV GSPGLPGKLG SLGSPGLPGL
PGPPGLPGMK GDRGVVGEPG PKGEQGASGE EGEAGERGEL GDIGLPGPKG SAGNPGEPGL
RGPEGSQGLP GVEGPRGPPG PRGVQGEQGA TGLPGVQGPP GRAPTDQHIK QVCMRVIQEH
FAEMAASLKR PDSGATGLPG RPGPPGPPGP PGENGFPGQM GIRGLPGIKG PPGALGLRGP
KGDLGEKGER GPPGRGPNGL PGAIGLPGDP GPASYGRNGR DGERGPPGVA GIPGVPGPPG
PPGLPGFCEP ASCTMQAGQR AFNKGPDP*

Position of stopcodon in wt / mu CDS

2067 / 2067

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

689 / 689

Position of stopcodon in wt / mu cDNA

2212 / 2212

Position of start ATG in wt / mu cDNA

146 / 146

Last intron/exon boundary

2027

Theoretical NMD boundary in CDS

1831

Length of CDS

2067

Coding sequence (CDS) position

1460

cDNA position

1605

gDNA position

68191

Chromosomal position

70234894

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:

6:70234894C>T_1_ENST00000320755

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 93|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:70234894C>T (GRCh38)

Gene symbol

COL9A1

Gene constraints

LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.94, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000320755.12

Genbank transcript ID

NM_078485 (by similarity)

UniProt / AlphaMissense peptide

CO9A1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1430G>A
g.68191G>A

AA changes

AAE:	R477Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs192467838
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	864	865

Protein conservation

Species	Match	AA	Alignment
Human		477	G	E	P	G	L	R	G	P	E	G	S	R	G	L	P	G	V	E	G	P	R	G	P	P
mutated	all conserved	477	G	E	P	G	L	R	G	P	E	G	S	Q	G	L	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
24	921	CHAIN		lost
254	759	REGION		lost
418	756	REGION	Triple-helical region	lost
473	516	DOMAIN	Collagen-like	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.194	0.984
	7.822	1
(flanking)	6.635	1

?

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

6

Strand

-1

Original gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Original cDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered cDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Wildtype AA sequence

MAWTARDRGA LGLLLLGLCL CAAQRGPPGE QGPPGPPGPP GVPGIDGIDG DRGPKGPPGP
PGPAGEPGKP GAPGKPGTPG ADGLTGPDGS PGSIGSKGQK GEPGVPGSRG FPGRGIPGPP
GPPGTAGLPG ELGRVGPVGD PGRRGPPGPP GPPGPRGTIG FHDGDPLCPN ACPPGRSGYP
GLPGMRGHKG AKGEIGEPGR QGHKGEEGDQ GELGEVGAQG PPGAQGLRGI TGIVGDKGEK
GARGLDGEPG PQGLPGAPGD QGQRGPPGEA GPKGDRGAEG ARGIPGLPGP KGDTGLPGVD
GRDGIPGMPG TKGEPGKPGP PGDAGLQGLP GVPGIPGAKG VAGEKGSTGA PGKPGQMGNS
GKPGQQGPPG EVGPRGPQGL PGSRGELGPV GSPGLPGKLG SLGSPGLPGL PGPPGLPGMK
GDRGVVGEPG PKGEQGASGE EGEAGERGEL GDIGLPGPKG SAGNPGEPGL RGPEGSRGLP
GVEGPRGPPG PRGVQGEQGA TGLPGVQGPP GRAPTDQHIK QVCMRVIQEH FAEMAASLKR
PDSGATGLPG RPGPPGPPGP PGENGFPGQM GIRGLPGIKG PPGALGLRGP KGDLGEKGER
GPPGRGPNGL PGAIGLPGDP GPASYGRNGR DGERGPPGVA GIPGVPGPPG PPGLPGFCEP
ASCTMQAGQR AFNKGPDP*

Mutated AA sequence

MAWTARDRGA LGLLLLGLCL CAAQRGPPGE QGPPGPPGPP GVPGIDGIDG DRGPKGPPGP
PGPAGEPGKP GAPGKPGTPG ADGLTGPDGS PGSIGSKGQK GEPGVPGSRG FPGRGIPGPP
GPPGTAGLPG ELGRVGPVGD PGRRGPPGPP GPPGPRGTIG FHDGDPLCPN ACPPGRSGYP
GLPGMRGHKG AKGEIGEPGR QGHKGEEGDQ GELGEVGAQG PPGAQGLRGI TGIVGDKGEK
GARGLDGEPG PQGLPGAPGD QGQRGPPGEA GPKGDRGAEG ARGIPGLPGP KGDTGLPGVD
GRDGIPGMPG TKGEPGKPGP PGDAGLQGLP GVPGIPGAKG VAGEKGSTGA PGKPGQMGNS
GKPGQQGPPG EVGPRGPQGL PGSRGELGPV GSPGLPGKLG SLGSPGLPGL PGPPGLPGMK
GDRGVVGEPG PKGEQGASGE EGEAGERGEL GDIGLPGPKG SAGNPGEPGL RGPEGSQGLP
GVEGPRGPPG PRGVQGEQGA TGLPGVQGPP GRAPTDQHIK QVCMRVIQEH FAEMAASLKR
PDSGATGLPG RPGPPGPPGP PGENGFPGQM GIRGLPGIKG PPGALGLRGP KGDLGEKGER
GPPGRGPNGL PGAIGLPGDP GPASYGRNGR DGERGPPGVA GIPGVPGPPG PPGLPGFCEP
ASCTMQAGQR AFNKGPDP*

Position of stopcodon in wt / mu CDS

2037 / 2037

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

679 / 679

Position of stopcodon in wt / mu cDNA

2194 / 2194

Position of start ATG in wt / mu cDNA

158 / 158

Last intron/exon boundary

2009

Theoretical NMD boundary in CDS

1801

Length of CDS

2037

Coding sequence (CDS) position

1430

cDNA position

1587

gDNA position

68191

Chromosomal position

70234894

Speed

0.64 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:

6:70234894C>T_4_ENST00000683758

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 167|33 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:70234894C>T (GRCh38)

Gene symbol

COL9A1

Gene constraints

LOEUF: 0.93, LOF (oe): 0.76, misssense (oe): 0.96, synonymous (oe): 1.19 ? (gnomAD)

Ensembl transcript ID

ENST00000683758.1

Genbank transcript ID

NM_001377290 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1393-301G>A
g.68191G>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	rs192467838
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	864	865

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.194	0.984
	7.822	1
(flanking)	6.635	1

?

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

6

Strand

-1

Original gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCGGGGGCTTCCTGGAGTGGAAG

Altered gDNA sequence snippet

GAGAGGGCCTGAGGGAAGTCAGGGGCTTCCTGGAGTGGAAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAWTARDRGA LGLLLLGLCL CAAQRGPPGE QGPPGPPGPP GVPGIDGIDG DRGPKGPPGP
PGPAGEPGKP GAPGKPGTPG ADGLTGPDGS PGSIGSKGQK GEPGVPGSRG FPGRGIPGPP
GPPGTAGLPG ELGRVGPVGD PGRRGPPGPP GPPGPRGTIG FHDGDPLCPN ACPPGRSGYP
GLPGMRGHKG AKGEIGEPGR QGHKGEEGDQ GELGEVGAQG PPGAQGLRGI TGIVGDKGEK
GARGLDGEPG PQGLPGAPGD QGQRGPPGEA GPKGDRGAEG ARGIPGLPGP KGDTGLPGVD
GRDGIPGMPG TKGEPGKPGP PGDAGLQGLP GVPGIPGAKG VAGEKGSTGA PGKPGQMGNS
GKPGQQGPPG EVGPRGPQGL PGSRGELGPV GSPGLPGKLG SLGSPGLPGL PGPPGLPGMK
GDRGVVGEPG PKGEQGASGE EGEAGERGEL GDIGLPGPKG SVSMGRAPTD QHIKQVCMRV
IQEHFAEMAA SLKRPDSGAT GLPGRPGPPG PPGPPGENGF PGQMGIRGLP GIKGPPGALG
LRGPKGDLGE KGERGPPGRG PNGLPGAIGL PGDPGPASYG RNGRDGERGP PGVAGIPGVP
GPPGPPGLPG FCEPASCTMQ AGQRAFNKGP DP*

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

185 / 185

Last intron/exon boundary

1898

Theoretical NMD boundary in CDS

1663

Length of CDS

1899

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

68191

Chromosomal position

70234894

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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