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: ENST00000518476
Querying Taster for transcript #2: ENST00000523299
MT speed 0.11 s - this script 2.549165 s

Transcript summary:

Permalink

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
ENST00000518476(MANE Select)	CNBD1	Benign	34\|66	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000523299	CNBD1	Benign	42\|58	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

8:87286642T>C_1_ENST00000518476

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:87286642T>C (GRCh38)

Gene symbol

CNBD1

Gene constraints

LOEUF: 1.78, LOF (oe): 1.18, misssense (oe): 1.30, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000518476.6

Genbank transcript ID

NM_173538 (exact from MANE)

UniProt / AlphaMissense peptide

CNBD1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1013T>C
g.420228T>C

AA changes

AAE:	L338P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		338	P	T	L	S	I	Y	E	L	I	A	L	L	K	W	K	K	F	P	P	G	H	V	I	V
mutated	not conserved	338	P	T	L	S	I	Y	E	L	I	A	L	P	K	W	K	K	F	P	P	G	H	V	I
Ptroglodytes	all identical	338	P	T	L	S	I	Y	E	L	I	A	L	L	K	W	K	K	F	P	P	G	H	V	I
Mmulatta	all identical	338	P	T	L	S	I	Y	E	L	I	A	L	L	K	W	K	K	F	P	P	G	H	V	I
Fcatus	all conserved	338	P	T	L	S	I	C	E	L	V	A	L	I	K	W	K	K	F	P	P	G	H	V	I
Mmusculus	not conserved	334	P	T	L	S	I	W	E	L	V	S	I	C	K	F	K	N	F	P	P	G	H	V	L
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	436	CHAIN		lost
322	436	BINDING	a nucleoside 3',5'-cyclic phosphate	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.095	0.005
	1.049	0.456
(flanking)	0.123	0.527

?

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

8

Strand

1

Original gDNA sequence snippet

ATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTC

Altered gDNA sequence snippet

ATATGAGCTAATTGCACTCCCTAAATGGAAAAAATTTCCTC

Original cDNA sequence snippet

ATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTC

Altered cDNA sequence snippet

ATATGAGCTAATTGCACTCCCTAAATGGAAAAAATTTCCTC

Wildtype AA sequence

MPMSSLPAAI LSHMTAINNV PPPPLHSIPN LKKSKHINYG QLNALCHIRG QHSRSMSNIL
SAHDTFMKQY PKVFLHQKPR LPKLFKQEEQ RELNEGKEES QHQQPDDSNN IAVHVQRAHG
GHILYRPKRA TEKFEEFLAI LKKLPIHRTP YEHKTVWKFL KTIPDLTFQL NDKHLKTLSK
TVFSETWLKG STVVANDGFY VILKGLARPQ TNVYKNLIEG SDSPDSFISQ SFHSFIWSEE
FKNSTLAEMY LPSYDSMLSK WSTFGTLEVM PQNESETQMF SVVTEDDCEI LKIPAKGYAK
IKEEKIKLEN MQKLKLIRMC PYYEEWPTLS IYELIALLKW KKFPPGHVIV ESGNIISFVG
YINSGCCNIY RSIIGFVKLR SNKVKRSQKL VYMGKLKEKE SFGEISVLLQ VPFTCTIITK
KEVEMAIIED KDLFVA*

Mutated AA sequence

MPMSSLPAAI LSHMTAINNV PPPPLHSIPN LKKSKHINYG QLNALCHIRG QHSRSMSNIL
SAHDTFMKQY PKVFLHQKPR LPKLFKQEEQ RELNEGKEES QHQQPDDSNN IAVHVQRAHG
GHILYRPKRA TEKFEEFLAI LKKLPIHRTP YEHKTVWKFL KTIPDLTFQL NDKHLKTLSK
TVFSETWLKG STVVANDGFY VILKGLARPQ TNVYKNLIEG SDSPDSFISQ SFHSFIWSEE
FKNSTLAEMY LPSYDSMLSK WSTFGTLEVM PQNESETQMF SVVTEDDCEI LKIPAKGYAK
IKEEKIKLEN MQKLKLIRMC PYYEEWPTLS IYELIALPKW KKFPPGHVIV ESGNIISFVG
YINSGCCNIY RSIIGFVKLR SNKVKRSQKL VYMGKLKEKE SFGEISVLLQ VPFTCTIITK
KEVEMAIIED KDLFVA*

Position of stopcodon in wt / mu CDS

1311 / 1311

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

437 / 437

Position of stopcodon in wt / mu cDNA

1392 / 1392

Position of start ATG in wt / mu cDNA

82 / 82

Last intron/exon boundary

1384

Theoretical NMD boundary in CDS

1252

Length of CDS

1311

Coding sequence (CDS) position

1013

cDNA position

1094

gDNA position

420228

Chromosomal position

87286642

Speed

0.04 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:

8:87286642T>C_2_ENST00000523299

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 42|58 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:87286642T>C (GRCh38)

Gene symbol

CNBD1

Gene constraints

LOEUF: 1.96, LOF (oe): 2.29, misssense (oe): 1.87, synonymous (oe): 2.06 ? (gnomAD)

Ensembl transcript ID

ENST00000523299.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1013T>C
g.420228T>C

AA changes

AAE:	L338P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		338	P	T	L	S	I	Y	E	L	I	A	L	L	K	W	K	K	F	P	P	G	H	V	I	V
mutated	not conserved	338	P	T	L	S	I	Y	E	L	I	A	L	P	K	W	K	K	F	P	P	G	H	V	I
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)	-0.095	0.005
	1.049	0.456
(flanking)	0.123	0.527

?

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

8

Strand

1

Original gDNA sequence snippet

ATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTC

Altered gDNA sequence snippet

ATATGAGCTAATTGCACTCCCTAAATGGAAAAAATTTCCTC

Original cDNA sequence snippet

ATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTC

Altered cDNA sequence snippet

ATATGAGCTAATTGCACTCCCTAAATGGAAAAAATTTCCTC

Wildtype AA sequence

MPMSSLPAAI LSHMTAINNV PPPPLHSIPN LKKSKHINYG QLNALCHIRG QHSRSMSNIL
SAHDTFMKQY PKVFLHQKPR LPKLFKQEEQ RELNEGKEES QHQQPDDSNN IAVHVQRAHG
GHILYRPKRA TEKFEEFLAI LKKLPIHRTP YEHKTVWKFL KTIPDLTFQL NDKHLKTLSK
TVFSETWLKG STVVANDGFY VILKGLARPQ TNVYKNLIEG SDSPDSFISQ SFHSFIWSEE
FKNSTLAEMY LPSYDSMLSK WSTFGTLEVM PQNESETQMF SVVTEDDCEI LKIPAKGYAK
IKEEKIKLEN MQKLKLIRMC PYYEEWPTLS IYELIALLKW KKFPPGHVIV ESGNIISFVG
YINSGCCNIY RSIIGFVKLR SNKVKRSQKL VYMGKLKEKE SFGEISVLLQ VPFTCTIITK
KEVEMAIIED KDLFELDPVT KQLMLQTAKP TFGHLTDEDV KNEYLKKEQQ KEWKDFKDKT
VKNSLYYKGI IPGFGKWDHY CTSIPRNLKD TLVNY*

Mutated AA sequence

MPMSSLPAAI LSHMTAINNV PPPPLHSIPN LKKSKHINYG QLNALCHIRG QHSRSMSNIL
SAHDTFMKQY PKVFLHQKPR LPKLFKQEEQ RELNEGKEES QHQQPDDSNN IAVHVQRAHG
GHILYRPKRA TEKFEEFLAI LKKLPIHRTP YEHKTVWKFL KTIPDLTFQL NDKHLKTLSK
TVFSETWLKG STVVANDGFY VILKGLARPQ TNVYKNLIEG SDSPDSFISQ SFHSFIWSEE
FKNSTLAEMY LPSYDSMLSK WSTFGTLEVM PQNESETQMF SVVTEDDCEI LKIPAKGYAK
IKEEKIKLEN MQKLKLIRMC PYYEEWPTLS IYELIALPKW KKFPPGHVIV ESGNIISFVG
YINSGCCNIY RSIIGFVKLR SNKVKRSQKL VYMGKLKEKE SFGEISVLLQ VPFTCTIITK
KEVEMAIIED KDLFELDPVT KQLMLQTAKP TFGHLTDEDV KNEYLKKEQQ KEWKDFKDKT
VKNSLYYKGI IPGFGKWDHY CTSIPRNLKD TLVNY*

Position of stopcodon in wt / mu CDS

1548 / 1548

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

516 / 516

Position of stopcodon in wt / mu cDNA

1614 / 1614

Position of start ATG in wt / mu cDNA

67 / 67

Last intron/exon boundary

1497

Theoretical NMD boundary in CDS

1380

Length of CDS

1548

Coding sequence (CDS) position

1013

cDNA position

1079

gDNA position

420228

Chromosomal position

87286642

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