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: ENST00000267970
Querying Taster for transcript #2: ENST00000346495
Querying Taster for transcript #3: ENST00000424443
Querying Taster for transcript #4: ENST00000561277
Querying Taster for transcript #5: ENST00000558745
Querying Taster for transcript #6: ENST00000559494
MT speed 0.32 s - this script 2.773834 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000267970(MANE Select)	TSPAN3	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000559494	TSPAN3	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000424443	TSPAN3	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000346495	TSPAN3	Deleterious	93\|7	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000561277	TSPAN3	Deleterious	94\|6	5utr	No	Single base exchange	N/A
ENST00000558745	TSPAN3	Deleterious	94\|6	5utr	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

15:77052866T>C_1_ENST00000267970

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:77052866T>C (GRCh38)

Gene symbol

TSPAN3

Gene constraints

LOEUF: 0.71, LOF (oe): 0.39, misssense (oe): 0.82, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000267970.9

Genbank transcript ID

NM_005724 (exact from MANE)

UniProt / AlphaMissense peptide

TSN3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.496A>G
g.31119A>G

AA changes

AAE:	K166E	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs893801570
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		166	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E	T
mutated	all conserved	166	D	W	E	N	T	D	W	F	K	E	T	E	N	Q	S	V	P	L	S	C	C	R	E
Ptroglodytes	all identical	166	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E
Mmulatta	all identical	178	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E
Fcatus	all identical	166	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E
Mmusculus	all identical	169	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E
Ggallus	all identical	166	D	W	E	N	T	V	W	F	K	Q	T	K	N	N	S	V	P	L	S	C	C	K	A
Trubripes	all identical	173	D	W	R	N	T	R	W	F	G	E	S	K	N	N	S	V	P	V	S	C	C	Q	P
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	166	D	W	E	N	T	P	W	F	S	E	A	K	N	N	S	V	P	L	S	C	C	R	N

Protein features

Start (aa)	End (aa)	Feature	Details
1	253	CHAIN		lost
107	212	TOPO_DOM	Extracellular	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.062	1
	6.181	1
(flanking)	0.193	0.993

?

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

15

Strand

-1

Original gDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered gDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Original cDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered cDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Wildtype AA sequence

MGQCGITSSK TVLVFLNLIF WGAAGILCYV GAYVFITYDD YDHFFEDVYT LIPAVVIIAV
GALLFIIGLI GCCATIRESR CGLATFVIIL LLVFVTEVVV VVLGYVYRAK VENEVDRSIQ
KVYKTYNGTN PDAASRAIDY VQRQLHCCGI HNYSDWENTD WFKETKNQSV PLSCCRETAS
NCNGSLAHPS DLYAEGCEAL VVKKLQEIMM HVIWAALAFA AIQLLGMLCA CIVLCRRSRD
PAYELLITGG TYA*

Mutated AA sequence

MGQCGITSSK TVLVFLNLIF WGAAGILCYV GAYVFITYDD YDHFFEDVYT LIPAVVIIAV
GALLFIIGLI GCCATIRESR CGLATFVIIL LLVFVTEVVV VVLGYVYRAK VENEVDRSIQ
KVYKTYNGTN PDAASRAIDY VQRQLHCCGI HNYSDWENTD WFKETENQSV PLSCCRETAS
NCNGSLAHPS DLYAEGCEAL VVKKLQEIMM HVIWAALAFA AIQLLGMLCA CIVLCRRSRD
PAYELLITGG TYA*

Position of stopcodon in wt / mu CDS

762 / 762

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

254 / 254

Position of stopcodon in wt / mu cDNA

917 / 917

Position of start ATG in wt / mu cDNA

156 / 156

Last intron/exon boundary

824

Theoretical NMD boundary in CDS

618

Length of CDS

762

Coding sequence (CDS) position

496

cDNA position

651

gDNA position

31119

Chromosomal position

77052866

Speed

0.06 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:

15:77052866T>C_6_ENST00000559494

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:77052866T>C (GRCh38)

Gene symbol

TSPAN3

Gene constraints

LOEUF: 1.04, LOF (oe): 0.53, misssense (oe): 0.96, synonymous (oe): 1.51 ? (gnomAD)

Ensembl transcript ID

ENST00000559494.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.229A>G
g.31119A>G

AA changes

AAE:	K77E	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs893801570
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		77	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E	T
mutated	all conserved	77	D	W	E	N	T	D	W	F	K	E	T	E	N	Q	S	V	P	L	S	C	C	R	E
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)	5.062	1
	6.181	1
(flanking)	0.193	0.993

?

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

15

Strand

-1

Original gDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered gDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Original cDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered cDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Wildtype AA sequence

MGQCGITSSK TVLVFLNLIF WVENEVDRSI QKVYKTYNGT NPDAASRAID YVQRQLHCCG
IHNYSDWENT DWFKETKNQS VPLSCCRETA SNCNGSLAHP SDLYAEGCEA LVVKKLQEIM
MHVIWAALAF AAIQLLGMLC ACIVLCRRSR DPAYELLITG GTYA*

Mutated AA sequence

MGQCGITSSK TVLVFLNLIF WVENEVDRSI QKVYKTYNGT NPDAASRAID YVQRQLHCCG
IHNYSDWENT DWFKETENQS VPLSCCRETA SNCNGSLAHP SDLYAEGCEA LVVKKLQEIM
MHVIWAALAF AAIQLLGMLC ACIVLCRRSR DPAYELLITG GTYA*

Position of stopcodon in wt / mu CDS

495 / 495

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

165 / 165

Position of stopcodon in wt / mu cDNA

575 / 575

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

482

Theoretical NMD boundary in CDS

351

Length of CDS

495

Coding sequence (CDS) position

229

cDNA position

309

gDNA position

31119

Chromosomal position

77052866

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

Back to summary table

MutationT@ster 2025

Variant:

15:77052866T>C_3_ENST00000424443

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:77052866T>C (GRCh38)

Gene symbol

TSPAN3

Gene constraints

LOEUF: 0.86, LOF (oe): 0.46, misssense (oe): 0.87, synonymous (oe): 1.42 ? (gnomAD)

Ensembl transcript ID

ENST00000424443.7

Genbank transcript ID

NM_001168412 (by similarity)

UniProt / AlphaMissense peptide

TSN3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.304A>G
g.31119A>G

AA changes

AAE:	K102E	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs893801570
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		102	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E	T
mutated	all conserved	102	D	W	E	N	T	D	W	F	K	E	T	E	N	Q	S	V	P	L	S	C	C	R	E
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
1	253	CHAIN		lost
86	106	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.062	1
	6.181	1
(flanking)	0.193	0.993

?

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

15

Strand

-1

Original gDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered gDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Original cDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered cDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Wildtype AA sequence

MGQCGITSSK TVLVFLNLIF WFVIILLLVF VTEVVVVVLG YVYRAKVENE VDRSIQKVYK
TYNGTNPDAA SRAIDYVQRQ LHCCGIHNYS DWENTDWFKE TKNQSVPLSC CRETASNCNG
SLAHPSDLYA EGCEALVVKK LQEIMMHVIW AALAFAAIQL LGMLCACIVL CRRSRDPAYE
LLITGGTYA*

Mutated AA sequence

MGQCGITSSK TVLVFLNLIF WFVIILLLVF VTEVVVVVLG YVYRAKVENE VDRSIQKVYK
TYNGTNPDAA SRAIDYVQRQ LHCCGIHNYS DWENTDWFKE TENQSVPLSC CRETASNCNG
SLAHPSDLYA EGCEALVVKK LQEIMMHVIW AALAFAAIQL LGMLCACIVL CRRSRDPAYE
LLITGGTYA*

Position of stopcodon in wt / mu CDS

570 / 570

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

190 / 190

Position of stopcodon in wt / mu cDNA

725 / 725

Position of start ATG in wt / mu cDNA

156 / 156

Last intron/exon boundary

632

Theoretical NMD boundary in CDS

426

Length of CDS

570

Coding sequence (CDS) position

304

cDNA position

459

gDNA position

31119

Chromosomal position

77052866

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

Back to summary table

MutationT@ster 2025

Variant:

15:77052866T>C_2_ENST00000346495

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr15:77052866T>C (GRCh38)

Gene symbol

TSPAN3

Gene constraints

LOEUF: 0.80, LOF (oe): 0.42, misssense (oe): 0.87, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000346495.6

Genbank transcript ID

NM_198902 (by similarity)

UniProt / AlphaMissense peptide

TSN3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.421A>G
g.31119A>G

AA changes

AAE:	K141E	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs893801570
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		141	D	W	E	N	T	D	W	F	K	E	T	K	N	Q	S	V	P	L	S	C	C	R	E	T
mutated	all conserved	141	D	W	E	N	T	D	W	F	K	E	T	E	N	Q	S	V	P	L	S	C	C	R	E
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
1	253	CHAIN		lost
107	212	TOPO_DOM	Extracellular	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.062	1
	6.181	1
(flanking)	0.193	0.993

?

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

15

Strand

-1

Original gDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered gDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Original cDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered cDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Wildtype AA sequence

MGQCGITSSK TVLVFLNLIF WGAAGILCYV GAYVFITYDD YDHFFEDVYT LIPAVVIIAV
GALLFIIGLI GCCATIRESR CGLATVENEV DRSIQKVYKT YNGTNPDAAS RAIDYVQRQL
HCCGIHNYSD WENTDWFKET KNQSVPLSCC RETASNCNGS LAHPSDLYAE GCEALVVKKL
QEIMMHVIWA ALAFAAIQLL GMLCACIVLC RRSRDPAYEL LITGGTYA*

Mutated AA sequence

MGQCGITSSK TVLVFLNLIF WGAAGILCYV GAYVFITYDD YDHFFEDVYT LIPAVVIIAV
GALLFIIGLI GCCATIRESR CGLATVENEV DRSIQKVYKT YNGTNPDAAS RAIDYVQRQL
HCCGIHNYSD WENTDWFKET ENQSVPLSCC RETASNCNGS LAHPSDLYAE GCEALVVKKL
QEIMMHVIWA ALAFAAIQLL GMLCACIVLC RRSRDPAYEL LITGGTYA*

Position of stopcodon in wt / mu CDS

687 / 687

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

229 / 229

Position of stopcodon in wt / mu cDNA

842 / 842

Position of start ATG in wt / mu cDNA

156 / 156

Last intron/exon boundary

749

Theoretical NMD boundary in CDS

543

Length of CDS

687

Coding sequence (CDS) position

421

cDNA position

576

gDNA position

31119

Chromosomal position

77052866

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

Back to summary table

MutationT@ster 2025

Variant:

15:77052866T>C_4_ENST00000561277

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: 5utr
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:77052866T>C (GRCh38)

Gene symbol

TSPAN3

Gene constraints

LOEUF: 1.70, LOF (oe): 0.46, misssense (oe): 1.15, synonymous (oe): 1.41 ? (gnomAD)

Ensembl transcript ID

ENST00000561277.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.551A>G
g.31119A>G

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	rs893801570
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.062	1
	6.181	1
(flanking)	0.193	0.993

?

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

N/A

Chromosome

15

Strand

-1

Original gDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered gDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Original cDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered cDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Wildtype AA sequence

MMHVIWAALA FAAIQLLGML CACIVLCRRS RDPAYELLIT GGTYA*

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

680 / 680

Last intron/exon boundary

724

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

138

Coding sequence (CDS) position

N/A

cDNA position

551

gDNA position

31119

Chromosomal position

77052866

Speed

0.01 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:

15:77052866T>C_5_ENST00000558745

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: 5utr
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr15:77052866T>C (GRCh38)

Gene symbol

TSPAN3

Gene constraints

LOEUF: 1.70, LOF (oe): 0.46, misssense (oe): 1.15, synonymous (oe): 1.41 ? (gnomAD)

Ensembl transcript ID

ENST00000558745.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.571A>G
g.31119A>G

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	rs893801570
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.062	1
	6.181	1
(flanking)	0.193	0.993

?

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

N/A

Chromosome

15

Strand

-1

Original gDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered gDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Original cDNA sequence snippet

CAGATTGGTTCAAAGAAACCAAAAACCAGAGTGTCCCTCTT

Altered cDNA sequence snippet

CAGATTGGTTCAAAGAAACCGAAAACCAGAGTGTCCCTCTT

Wildtype AA sequence

MMHVIWAALA FAAIQLLGML CACIVLCRRS RDPAYELLIT GGTYA*

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

700 / 700

Last intron/exon boundary

744

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

138

Coding sequence (CDS) position

N/A

cDNA position

571

gDNA position

31119

Chromosomal position

77052866

Speed

0.01 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