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: ENST00000421975
Querying Taster for transcript #2: ENST00000314144
Querying Taster for transcript #3: ENST00000436961
MT speed 0.18 s - this script 2.619423 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000314144(MANE Select)	CCT6B	Deleterious	74\|26	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000421975	CCT6B	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000436961	CCT6B	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

17:34932416G>T_2_ENST00000314144

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 74|26 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:34932416G>T (GRCh38)

Gene symbol

CCT6B

Gene constraints

LOEUF: 1.12, LOF (oe): 0.64, misssense (oe): 0.94, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000314144.10

Genbank transcript ID

NM_006584 (exact from MANE)

UniProt / AlphaMissense peptide

TCPW_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1298C>A
g.48663C>A

AA changes

AAE:	A433D	?
Score:	126

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149590779
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	79	79

Protein conservation

Species	Match	AA	Alignment
Human		433	L	V	T	Y	K	N	S	I	K	G	R	A	R	L	G	V	Q	A	F	A	D	A	L	L
mutated	not conserved	433	L	V	T	Y	K	N	S	I	K	G	R	D	R	L	G	V	Q	A	F	A	D	A	L
Ptroglodytes	all identical	447	L	V	T	Y	K	N	S	I	K	G	R	A	R	L	G	V	Q	A	F	A	D	A	L
Mmulatta	all identical	433	L	V	T	Y	K	N	S	I	K	G	R	A	R	L	G	V	Q	A	F	A	D	A	L
Fcatus	all identical	433	L	V	N	Y	K	H	S	V	K	G	R	A	R	L	G	V	Q	A	F	A	N	A	L
Mmusculus	not conserved	433	L	V	N	Y	K	H	R	V	Q	G	R	V	R	L	G	I	Q	A	F	A	D	A	L
Ggallus	all identical	441	L	V	K	H	K	P	N	V	K	G	R	A	Q	L	G	V	Q	A	F	A	D	A	L
Trubripes	all identical	467	L	V	K	H	K	P	N	V	K	G	R	A	Q	L	G	V	Q	A	F	A	D	A	L
Drerio	no homologue
Dmelanogaster	all conserved	435	L	V	A	F	K	D	T	I	K	G	K	S	R	L	A	V	Q	A	F	A	D	A	L
Celegans	all identical	437	L	K	K	D	V	E	N	L	K	G	R	A	K	L	G	A	E	A	F	A	Q	A	L
Xtropicalis	all identical	434	L	V	K	H	K	P	N	V	K	G	R	A	Q	L	G	V	Q	A	F	A	D	A	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	530	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.894	1
	5.237	1
(flanking)	4.576	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

17

Strand

-1

Original gDNA sequence snippet

GAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTT

Altered gDNA sequence snippet

GAACAGTATAAAAGGAAGAGATCGTCTTGGAGTCCAAGCTT

Original cDNA sequence snippet

GAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTT

Altered cDNA sequence snippet

GAACAGTATAAAAGGAAGAGATCGTCTTGGAGTCCAAGCTT

Wildtype AA sequence

MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKLIQGL VLDHGARHPD MKKRVEDAFI LICNVSLEYE
KTEVNSGFFY KTAEEKEKLV KAERKFIEDR VQKIIDLKDK VCAQSNKGFV VINQKGIDPF
SLDSLAKHGI VALRRAKRRN MERLSLACGG MAVNSFEDLT VDCLGHAGLV YEYTLGEEKF
TFIEECVNPC SVTLLVKGPN KHTLTQVKDA IRDGLRAIKN AIEDGCMVPG AGAIEVAMAE
ALVTYKNSIK GRARLGVQAF ADALLIIPKV LAQNAGYDPQ ETLVKVQAEH VESKQLVGVD
LNTGEPMVAA DAGVWDNYCV KKQLLHSCTV IATNILLVDE IMRAGMSSLK *

Mutated AA sequence

MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKLIQGL VLDHGARHPD MKKRVEDAFI LICNVSLEYE
KTEVNSGFFY KTAEEKEKLV KAERKFIEDR VQKIIDLKDK VCAQSNKGFV VINQKGIDPF
SLDSLAKHGI VALRRAKRRN MERLSLACGG MAVNSFEDLT VDCLGHAGLV YEYTLGEEKF
TFIEECVNPC SVTLLVKGPN KHTLTQVKDA IRDGLRAIKN AIEDGCMVPG AGAIEVAMAE
ALVTYKNSIK GRDRLGVQAF ADALLIIPKV LAQNAGYDPQ ETLVKVQAEH VESKQLVGVD
LNTGEPMVAA DAGVWDNYCV KKQLLHSCTV IATNILLVDE IMRAGMSSLK *

Position of stopcodon in wt / mu CDS

1593 / 1593

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

531 / 531

Position of stopcodon in wt / mu cDNA

1660 / 1660

Position of start ATG in wt / mu cDNA

68 / 68

Last intron/exon boundary

1590

Theoretical NMD boundary in CDS

1472

Length of CDS

1593

Coding sequence (CDS) position

1298

cDNA position

1365

gDNA position

48663

Chromosomal position

34932416

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:

17:34932416G>T_1_ENST00000421975

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:34932416G>T (GRCh38)

Gene symbol

CCT6B

Gene constraints

LOEUF: 1.12, LOF (oe): 0.64, misssense (oe): 0.94, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000421975.7

Genbank transcript ID

NM_001193529 (by similarity)

UniProt / AlphaMissense peptide

TCPW_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1187C>A
g.48663C>A

AA changes

AAE:	A396D	?
Score:	126

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149590779
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	79	79

Protein conservation

Species	Match	AA	Alignment
Human		396	L	V	T	Y	K	N	S	I	K	G	R	A	R	L	G	V	Q	A	F	A	D	A	L	L
mutated	not conserved	396	L	V	T	Y	K	N	S	I	K	G	R	D	R	L	G	V	Q	A	F	A	D	A	L
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	530	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.894	1
	5.237	1
(flanking)	4.576	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

17

Strand

-1

Original gDNA sequence snippet

GAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTT

Altered gDNA sequence snippet

GAACAGTATAAAAGGAAGAGATCGTCTTGGAGTCCAAGCTT

Original cDNA sequence snippet

GAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTT

Altered cDNA sequence snippet

GAACAGTATAAAAGGAAGAGATCGTCTTGGAGTCCAAGCTT

Wildtype AA sequence

MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKEVNSG FFYKTAEEKE KLVKAERKFI EDRVQKIIDL
KDKVCAQSNK GFVVINQKGI DPFSLDSLAK HGIVALRRAK RRNMERLSLA CGGMAVNSFE
DLTVDCLGHA GLVYEYTLGE EKFTFIEECV NPCSVTLLVK GPNKHTLTQV KDAIRDGLRA
IKNAIEDGCM VPGAGAIEVA MAEALVTYKN SIKGRARLGV QAFADALLII PKVLAQNAGY
DPQETLVKVQ AEHVESKQLV GVDLNTGEPM VAADAGVWDN YCVKKQLLHS CTVIATNILL
VDEIMRAGMS SLK*

Mutated AA sequence

MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKEVNSG FFYKTAEEKE KLVKAERKFI EDRVQKIIDL
KDKVCAQSNK GFVVINQKGI DPFSLDSLAK HGIVALRRAK RRNMERLSLA CGGMAVNSFE
DLTVDCLGHA GLVYEYTLGE EKFTFIEECV NPCSVTLLVK GPNKHTLTQV KDAIRDGLRA
IKNAIEDGCM VPGAGAIEVA MAEALVTYKN SIKGRDRLGV QAFADALLII PKVLAQNAGY
DPQETLVKVQ AEHVESKQLV GVDLNTGEPM VAADAGVWDN YCVKKQLLHS CTVIATNILL
VDEIMRAGMS SLK*

Position of stopcodon in wt / mu CDS

1482 / 1482

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

494 / 494

Position of stopcodon in wt / mu cDNA

1491 / 1491

Position of start ATG in wt / mu cDNA

10 / 10

Last intron/exon boundary

1421

Theoretical NMD boundary in CDS

1361

Length of CDS

1482

Coding sequence (CDS) position

1187

cDNA position

1196

gDNA position

48663

Chromosomal position

34932416

Speed

0.05 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:

17:34932416G>T_3_ENST00000436961

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:34932416G>T (GRCh38)

Gene symbol

CCT6B

Gene constraints

LOEUF: 1.12, LOF (oe): 0.64, misssense (oe): 0.94, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000436961.7

Genbank transcript ID

NM_001193530 (by similarity)

UniProt / AlphaMissense peptide

TCPW_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1163C>A
g.48663C>A

AA changes

AAE:	A388D	?
Score:	126

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149590779
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	79	79

Protein conservation

Species	Match	AA	Alignment
Human		388	L	V	T	Y	K	N	S	I	K	G	R	A	R	L	G	V	Q	A	F	A	D	A	L	L
mutated	not conserved	388	L	V	T	Y	K	N	S	I	K	G	R	D	R	L	G	V	Q	A	F	A	D	A	L
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	530	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.894	1
	5.237	1
(flanking)	4.576	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

17

Strand

-1

Original gDNA sequence snippet

GAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTT

Altered gDNA sequence snippet

GAACAGTATAAAAGGAAGAGATCGTCTTGGAGTCCAAGCTT

Original cDNA sequence snippet

GAACAGTATAAAAGGAAGAGCTCGTCTTGGAGTCCAAGCTT

Altered cDNA sequence snippet

GAACAGTATAAAAGGAAGAGATCGTCTTGGAGTCCAAGCTT

Wildtype AA sequence

MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMGLH PRIIAEGFEA AKIKALEVLE EVKVTKEMKR KILLDVARTS LQTKVHAELA
DVLTEVVVDS VLAVRRPGYP IDLFMVEIME MKHKLGTDTK LIQGLVLDHG ARHPDMKKRV
EDAFILICNV SLEYEKTEVN SGFFYKTAEE KEKLVKAERK FIEDRVQKII DLKDKVCAQS
NKGFVVINQK GIDPFSLDSL AKHGIVALRR AKRRNMERLS LACGGMAVNS FEDLTVDCLG
HAGLVYEYTL GEEKFTFIEE CVNPCSVTLL VKGPNKHTLT QVKDAIRDGL RAIKNAIEDG
CMVPGAGAIE VAMAEALVTY KNSIKGRARL GVQAFADALL IIPKVLAQNA GYDPQETLVK
VQAEHVESKQ LVGVDLNTGE PMVAADAGVW DNYCVKKQLL HSCTVIATNI LLVDEIMRAG
MSSLK*

Mutated AA sequence

MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMGLH PRIIAEGFEA AKIKALEVLE EVKVTKEMKR KILLDVARTS LQTKVHAELA
DVLTEVVVDS VLAVRRPGYP IDLFMVEIME MKHKLGTDTK LIQGLVLDHG ARHPDMKKRV
EDAFILICNV SLEYEKTEVN SGFFYKTAEE KEKLVKAERK FIEDRVQKII DLKDKVCAQS
NKGFVVINQK GIDPFSLDSL AKHGIVALRR AKRRNMERLS LACGGMAVNS FEDLTVDCLG
HAGLVYEYTL GEEKFTFIEE CVNPCSVTLL VKGPNKHTLT QVKDAIRDGL RAIKNAIEDG
CMVPGAGAIE VAMAEALVTY KNSIKGRDRL GVQAFADALL IIPKVLAQNA GYDPQETLVK
VQAEHVESKQ LVGVDLNTGE PMVAADAGVW DNYCVKKQLL HSCTVIATNI LLVDEIMRAG
MSSLK*

Position of stopcodon in wt / mu CDS

1458 / 1458

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

486 / 486

Position of stopcodon in wt / mu cDNA

1523 / 1523

Position of start ATG in wt / mu cDNA

66 / 66

Last intron/exon boundary

1453

Theoretical NMD boundary in CDS

1337

Length of CDS

1458

Coding sequence (CDS) position

1163

cDNA position

1228

gDNA position

48663

Chromosomal position

34932416

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