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: ENST00000503026
Querying Taster for transcript #2: ENST00000515390
Querying Taster for transcript #3: ENST00000280326
Querying Taster for transcript #4: ENST00000515676
Querying Taster for transcript #5: ENST00000506600
MT speed 0.21 s - this script 2.617352 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000280326(MANE Select)	CCT5	Benign	74\|26	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000506600	CCT5	Benign	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000515390	CCT5	Benign	85\|15	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000503026	CCT5	Benign	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000515676	CCT5	Benign	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD

MutationT@ster 2025

Variant:

5:10261652C>G_3_ENST00000280326

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 74|26 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr5:10261652C>G (GRCh38)

Gene symbol

CCT5

Gene constraints

LOEUF: 0.23, LOF (oe): 0.12, misssense (oe): 0.75, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000280326.9

Genbank transcript ID

NM_012073 (exact from MANE)

UniProt / AlphaMissense peptide

TCPE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1086C>G
g.11724C>G

AA changes

AAE:	I362M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141675330
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	43	9582	9625

Protein conservation

Species	Match	AA	Alignment
Human		362	E	K	L	G	F	A	G	L	V	Q	E	I	S	F	G	T	T	K	D	K	M	L	V	I
mutated	all conserved	362											E	M	S	F	G	T	T	K	D	K	M	L	V
Ptroglodytes	all identical	362											E	I	S	F	G	T	T	K	D	K	M	L	V
Mmulatta	all identical	362											E	I	S	F	G	T	T	K	D	K	M	L	V
Fcatus	all identical	362											E	I	S	F	G	T	T	K	D	K	M	L	V
Mmusculus	all identical	362											E	I	S	F	G	T	T	K	D	K	M	L	V
Ggallus	all identical	362											E	I	S	F	G	T	T	K	D	R	M	L	V
Trubripes	all identical	362											E	I	S	F	G	T	T	K	D	R	M	L	V
Drerio	no homologue
Dmelanogaster	all conserved	363	E	K	L	G	V	A	G	L	V	R	E	M	A	F
Celegans	all identical	361	E	K	L	G	T	A	G	L	V	R	E	I	T	F	G	A	A	K	D	R	M	L	S
Xtropicalis	all identical	324	E	K	L	G	Y	A	G	I	V	K	E	I	S	F	G	T	T	K	D	R	M	L	V

Protein features

Start (aa)	End (aa)	Feature	Details
2	541	CHAIN		lost
354	363	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.941	1
	1.961	1
(flanking)	4.737	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

5

Strand

1

Original gDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered gDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Original cDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered cDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Wildtype AA sequence

MASMGTLAFD EYGRPFLIIK DQDRKSRLMG LEALKSHIMA AKAVANTMRT SLGPNGLDKM
MVDKDGDVTV TNDGATILSM MDVDHQIAKL MVELSKSQDD EIGDGTTGVV VLAGALLEEA
EQLLDRGIHP IRIADGYEQA ARVAIEHLDK ISDSVLVDIK DTEPLIQTAK TTLGSKVVNS
CHRQMAEIAV NAVLTVADME RRDVDFELIK VEGKVGGRLE DTKLIKGVIV DKDFSHPQMP
KKVEDAKIAI LTCPFEPPKP KTKHKLDVTS VEDYKALQKY EKEKFEEMIQ QIKETGANLA
ICQWGFDDEA NHLLLQNNLP AVRWVGGPEI ELIAIATGGR IVPRFSELTA EKLGFAGLVQ
EISFGTTKDK MLVIEQCKNS RAVTIFIRGG NKMIIEEAKR SLHDALCVIR NLIRDNRVVY
GGGAAEISCA LAVSQEADKC PTLEQYAMRA FADALEVIPM ALSENSGMNP IQTMTEVRAR
QVKEMNPALG IDCLHKGTND MKQQHVIETL IGKKQQISLA TQMVRMILKI DDIRKPGESE
E*

Mutated AA sequence

MASMGTLAFD EYGRPFLIIK DQDRKSRLMG LEALKSHIMA AKAVANTMRT SLGPNGLDKM
MVDKDGDVTV TNDGATILSM MDVDHQIAKL MVELSKSQDD EIGDGTTGVV VLAGALLEEA
EQLLDRGIHP IRIADGYEQA ARVAIEHLDK ISDSVLVDIK DTEPLIQTAK TTLGSKVVNS
CHRQMAEIAV NAVLTVADME RRDVDFELIK VEGKVGGRLE DTKLIKGVIV DKDFSHPQMP
KKVEDAKIAI LTCPFEPPKP KTKHKLDVTS VEDYKALQKY EKEKFEEMIQ QIKETGANLA
ICQWGFDDEA NHLLLQNNLP AVRWVGGPEI ELIAIATGGR IVPRFSELTA EKLGFAGLVQ
EMSFGTTKDK MLVIEQCKNS RAVTIFIRGG NKMIIEEAKR SLHDALCVIR NLIRDNRVVY
GGGAAEISCA LAVSQEADKC PTLEQYAMRA FADALEVIPM ALSENSGMNP IQTMTEVRAR
QVKEMNPALG IDCLHKGTND MKQQHVIETL IGKKQQISLA TQMVRMILKI DDIRKPGESE
E*

Position of stopcodon in wt / mu CDS

1626 / 1626

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

542 / 542

Position of stopcodon in wt / mu cDNA

1687 / 1687

Position of start ATG in wt / mu cDNA

62 / 62

Last intron/exon boundary

1559

Theoretical NMD boundary in CDS

1447

Length of CDS

1626

Coding sequence (CDS) position

1086

cDNA position

1147

gDNA position

11724

Chromosomal position

10261652

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:

5:10261652C>G_5_ENST00000506600

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 84|16 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr5:10261652C>G (GRCh38)

Gene symbol

CCT5

Gene constraints

LOEUF: 0.21, LOF (oe): 0.09, misssense (oe): 0.77, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000506600.1

Genbank transcript ID

NM_001306155 (by similarity)

UniProt / AlphaMissense peptide

TCPE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.807C>G
g.11724C>G

AA changes

AAE:	I269M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141675330
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	43	9582	9625

Protein conservation

Species	Match	AA	Alignment
Human		269	E	K	L	G	F	A	G	L	V	Q	E	I	S	F	G	T	T	K	D	K	M	L	V	I
mutated	all conserved	269	E	K	L	G	F	A	G	L	V	Q	E	M	S	F	G	T	T	K	D	K	M	L	V
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
2	541	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.941	1
	1.961	1
(flanking)	4.737	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

5

Strand

1

Original gDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered gDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Original cDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered cDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Wildtype AA sequence

MAAKAVANTM RTSLGPNVLA GALLEEAEQL LDRGIHPIRI ADGYEQAARV AIEHLDKISD
SVLVDIKDTE PLIQTAKTTL GSKVVNSCHR QMAEIAVNAV LTVADMERRD VDFELIKVEG
KVGGRLEDTK LIKGVIVDKD FSHPQMPKKV EDAKIAILTC PFEPPKPKTK HKLDVTSVED
YKALQKYEKE KFEEMIQQIK ETGANLAICQ WGFDDEANHL LLQNNLPAVR WVGGPEIELI
AIATGGRIVP RFSELTAEKL GFAGLVQEIS FGTTKDKMLV IEQCKNSRAV TIFIRGGNKM
IIEEAKRSLH DALCVIRNLI RDNRVVYGGG AAEISCALAV SQEADKCPTL EQYAMRAFAD
ALEVIPMALS ENSGMNPIQT MTEVRARQVK EMNPALGIDC LHKGTNDMKQ QHVIETLIGK
KQQISLATQM VRMILKIDDI RKPGESEE*

Mutated AA sequence

MAAKAVANTM RTSLGPNVLA GALLEEAEQL LDRGIHPIRI ADGYEQAARV AIEHLDKISD
SVLVDIKDTE PLIQTAKTTL GSKVVNSCHR QMAEIAVNAV LTVADMERRD VDFELIKVEG
KVGGRLEDTK LIKGVIVDKD FSHPQMPKKV EDAKIAILTC PFEPPKPKTK HKLDVTSVED
YKALQKYEKE KFEEMIQQIK ETGANLAICQ WGFDDEANHL LLQNNLPAVR WVGGPEIELI
AIATGGRIVP RFSELTAEKL GFAGLVQEMS FGTTKDKMLV IEQCKNSRAV TIFIRGGNKM
IIEEAKRSLH DALCVIRNLI RDNRVVYGGG AAEISCALAV SQEADKCPTL EQYAMRAFAD
ALEVIPMALS ENSGMNPIQT MTEVRARQVK EMNPALGIDC LHKGTNDMKQ QHVIETLIGK
KQQISLATQM VRMILKIDDI RKPGESEE*

Position of stopcodon in wt / mu CDS

1347 / 1347

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

449 / 449

Position of stopcodon in wt / mu cDNA

1711 / 1711

Position of start ATG in wt / mu cDNA

365 / 365

Last intron/exon boundary

1583

Theoretical NMD boundary in CDS

1168

Length of CDS

1347

Coding sequence (CDS) position

807

cDNA position

1171

gDNA position

11724

Chromosomal position

10261652

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:

5:10261652C>G_2_ENST00000515390

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 85|15 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr5:10261652C>G (GRCh38)

Gene symbol

CCT5

Gene constraints

LOEUF: 0.23, LOF (oe): 0.11, misssense (oe): 0.78, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000515390.5

Genbank transcript ID

NM_001306154 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.921C>G
g.11724C>G

AA changes

AAE:	I307M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141675330
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	43	9582	9625

Protein conservation

Species	Match	AA	Alignment
Human		307	E	K	L	G	F	A	G	L	V	Q	E	I	S	F	G	T	T	K	D	K	M	L	V	I
mutated	all conserved	307						A	G	L	V	Q	E	M	S	F	G	T	T	K	D	K	M	L	V
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)	5.941	1
	1.961	1
(flanking)	4.737	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

5

Strand

1

Original gDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered gDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Original cDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered cDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Wildtype AA sequence

MASMGTLAFD EYGRPFLIIK DQDRKSRLMG LEALKSHIMA AKAVANTMRT SLGPNVLAGA
LLEEAEQLLD RGIHPIRIAD GYEQAARVAI EHLDKISDSV LVDIKDTEPL IQTAKTTLGS
KVVNSCHRQM AEIAVNAVLT VADMERRDVD FELIKVEGKV GGRLEDTKLI KGVIVDKDFS
HPQMPKKVED AKIAILTCPF EPPKPKTKHK LDVTSVEDYK ALQKYEKEKF EEMIQQIKET
GANLAICQWG FDDEANHLLL QNNLPAVRWV GGPEIELIAI ATGGRIVPRF SELTAEKLGF
AGLVQEISFG TTKDKMLVIE QCKNSRAVTI FIRGGNKMII EEAKRSLHDA LCVIRNLIRD
NRVVYGGGAA EISCALAVSQ EADKCPTLEQ YAMRAFADAL EVIPMALSEN SGMNPIQTMT
EVRARQVKEM NPALGIDCLH KGTNDMKQQH VIETLIGKKQ QISLATQMVR MILKIDDIRK
PGESEE*

Mutated AA sequence

MASMGTLAFD EYGRPFLIIK DQDRKSRLMG LEALKSHIMA AKAVANTMRT SLGPNVLAGA
LLEEAEQLLD RGIHPIRIAD GYEQAARVAI EHLDKISDSV LVDIKDTEPL IQTAKTTLGS
KVVNSCHRQM AEIAVNAVLT VADMERRDVD FELIKVEGKV GGRLEDTKLI KGVIVDKDFS
HPQMPKKVED AKIAILTCPF EPPKPKTKHK LDVTSVEDYK ALQKYEKEKF EEMIQQIKET
GANLAICQWG FDDEANHLLL QNNLPAVRWV GGPEIELIAI ATGGRIVPRF SELTAEKLGF
AGLVQEMSFG TTKDKMLVIE QCKNSRAVTI FIRGGNKMII EEAKRSLHDA LCVIRNLIRD
NRVVYGGGAA EISCALAVSQ EADKCPTLEQ YAMRAFADAL EVIPMALSEN SGMNPIQTMT
EVRARQVKEM NPALGIDCLH KGTNDMKQQH VIETLIGKKQ QISLATQMVR MILKIDDIRK
PGESEE*

Position of stopcodon in wt / mu CDS

1461 / 1461

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

487 / 487

Position of stopcodon in wt / mu cDNA

1586 / 1586

Position of start ATG in wt / mu cDNA

126 / 126

Last intron/exon boundary

1458

Theoretical NMD boundary in CDS

1282

Length of CDS

1461

Coding sequence (CDS) position

921

cDNA position

1046

gDNA position

11724

Chromosomal position

10261652

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:

5:10261652C>G_1_ENST00000503026

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 90|10 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr5:10261652C>G (GRCh38)

Gene symbol

CCT5

Gene constraints

LOEUF: 0.26, LOF (oe): 0.14, misssense (oe): 0.75, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000503026.5

Genbank transcript ID

NM_001306153 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1023C>G
g.11724C>G

AA changes

AAE:	I341M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141675330
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	43	9582	9625

Protein conservation

Species	Match	AA	Alignment
Human		341	E	K	L	G	F	A	G	L	V	Q	E	I	S	F	G	T	T	K	D	K	M	L	V	I
mutated	all conserved	341	E	K	L	G	F	A	G	L	V	Q	E	M	S	F	G	T	T	K	D	K	M	L	V
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)	5.941	1
	1.961	1
(flanking)	4.737	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

5

Strand

1

Original gDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered gDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Original cDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered cDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Wildtype AA sequence

MNSSLGPTIE KLSVSHIMAA KAVANTMRTS LGPNGLDKMM VDKDGDVTVT NDGATILSMM
DVDHQIAKLM VELSKSQDDE IGDGTTGVVV LAGALLEEAE QLLDRGIHPI RIADGYEQAA
RVAIEHLDKI SDSVLVDIKD TEPLIQTAKT TLGSKVVNSC HRQMAEIAVN AVLTVADMER
RDVDFELIKV EGKVGGRLED TKLIKGVIVD KDFSHPQMPK KVEDAKIAIL TCPFEPPKPK
TKHKLDVTSV EDYKALQKYE KEKFEEMIQQ IKETGANLAI CQWGFDDEAN HLLLQNNLPA
VRWVGGPEIE LIAIATGGRI VPRFSELTAE KLGFAGLVQE ISFGTTKDKM LVIEQCKNSR
AVTIFIRGGN KMIIEEAKRS LHDALCVIRN LIRDNRVVYG GGAAEISCAL AVSQEADKCP
TLEQYAMRAF ADALEVIPMA LSENSGMNPI QTMTEVRARQ VKEMNPALGI DCLHKGTNDM
KQQHVIETLI GKKQQISLAT QMVRMILKID DIRKPGESEE *

Mutated AA sequence

MNSSLGPTIE KLSVSHIMAA KAVANTMRTS LGPNGLDKMM VDKDGDVTVT NDGATILSMM
DVDHQIAKLM VELSKSQDDE IGDGTTGVVV LAGALLEEAE QLLDRGIHPI RIADGYEQAA
RVAIEHLDKI SDSVLVDIKD TEPLIQTAKT TLGSKVVNSC HRQMAEIAVN AVLTVADMER
RDVDFELIKV EGKVGGRLED TKLIKGVIVD KDFSHPQMPK KVEDAKIAIL TCPFEPPKPK
TKHKLDVTSV EDYKALQKYE KEKFEEMIQQ IKETGANLAI CQWGFDDEAN HLLLQNNLPA
VRWVGGPEIE LIAIATGGRI VPRFSELTAE KLGFAGLVQE MSFGTTKDKM LVIEQCKNSR
AVTIFIRGGN KMIIEEAKRS LHDALCVIRN LIRDNRVVYG GGAAEISCAL AVSQEADKCP
TLEQYAMRAF ADALEVIPMA LSENSGMNPI QTMTEVRARQ VKEMNPALGI DCLHKGTNDM
KQQHVIETLI GKKQQISLAT QMVRMILKID DIRKPGESEE *

Position of stopcodon in wt / mu CDS

1563 / 1563

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

521 / 521

Position of stopcodon in wt / mu cDNA

1638 / 1638

Position of start ATG in wt / mu cDNA

76 / 76

Last intron/exon boundary

1510

Theoretical NMD boundary in CDS

1384

Length of CDS

1563

Coding sequence (CDS) position

1023

cDNA position

1098

gDNA position

11724

Chromosomal position

10261652

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:

5:10261652C>G_4_ENST00000515676

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 90|10 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr5:10261652C>G (GRCh38)

Gene symbol

CCT5

Gene constraints

LOEUF: 0.22, LOF (oe): 0.10, misssense (oe): 0.75, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000515676.5

Genbank transcript ID

NM_001306156 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.972C>G
g.11724C>G

AA changes

AAE:	I324M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141675330
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	43	9582	9625

Protein conservation

Species	Match	AA	Alignment
Human		324	E	K	L	G	F	A	G	L	V	Q	E	I	S	F	G	T	T	K	D	K	M	L	V	I
mutated	all conserved	324	E	K	L	G	F	A	G	L	V	Q	E	M	S	F	G	T	T	K	D	K	M	L	V
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)	5.941	1
	1.961	1
(flanking)	4.737	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

5

Strand

1

Original gDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered gDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Original cDNA sequence snippet

GCTGGTCTTGTACAGGAGATCTCATTTGGGACAACTAAGGA

Altered cDNA sequence snippet

GCTGGTCTTGTACAGGAGATGTCATTTGGGACAACTAAGGA

Wildtype AA sequence

MAAKAVANTM RTSLGPNGLD KMMVDKDGDV TVTNDGATIL SMMDVDHQIA KLMVELSKSQ
DDEIGDGTTG VVVLAGALLE EAEQLLDRGI HPIRIADGYE QAARVAIEHL DKISDSVLVD
IKDTEPLIQT AKTTLGSKVV NSCHRQMAEI AVNAVLTVAD MERRDVDFEL IKVEGKVGGR
LEDTKLIKGV IVDKDFSHPQ MPKKVEDAKI AILTCPFEPP KPKTKHKLDV TSVEDYKALQ
KYEKEKFEEM IQQIKETGAN LAICQWGFDD EANHLLLQNN LPAVRWVGGP EIELIAIATG
GRIVPRFSEL TAEKLGFAGL VQEISFGTTK DKMLVIEQCK NSRAVTIFIR GGNKMIIEEA
KRSLHDALCV IRNLIRDNRV VYGGGAAEIS CALAVSQEAD KCPTLEQYAM RAFADALEVI
PMALSENSGM NPIQTMTEVR ARQVKEMNPA LGIDCLHKGT NDMKQQHVIE TLIGKKQQIS
LATQMVRMIL KIDDIRKPGE SEE*

Mutated AA sequence

MAAKAVANTM RTSLGPNGLD KMMVDKDGDV TVTNDGATIL SMMDVDHQIA KLMVELSKSQ
DDEIGDGTTG VVVLAGALLE EAEQLLDRGI HPIRIADGYE QAARVAIEHL DKISDSVLVD
IKDTEPLIQT AKTTLGSKVV NSCHRQMAEI AVNAVLTVAD MERRDVDFEL IKVEGKVGGR
LEDTKLIKGV IVDKDFSHPQ MPKKVEDAKI AILTCPFEPP KPKTKHKLDV TSVEDYKALQ
KYEKEKFEEM IQQIKETGAN LAICQWGFDD EANHLLLQNN LPAVRWVGGP EIELIAIATG
GRIVPRFSEL TAEKLGFAGL VQEMSFGTTK DKMLVIEQCK NSRAVTIFIR GGNKMIIEEA
KRSLHDALCV IRNLIRDNRV VYGGGAAEIS CALAVSQEAD KCPTLEQYAM RAFADALEVI
PMALSENSGM NPIQTMTEVR ARQVKEMNPA LGIDCLHKGT NDMKQQHVIE TLIGKKQQIS
LATQMVRMIL KIDDIRKPGE SEE*

Position of stopcodon in wt / mu CDS

1512 / 1512

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

504 / 504

Position of stopcodon in wt / mu cDNA

1878 / 1878

Position of start ATG in wt / mu cDNA

367 / 367

Last intron/exon boundary

1750

Theoretical NMD boundary in CDS

1333

Length of CDS

1512

Coding sequence (CDS) position

972

cDNA position

1338

gDNA position

11724

Chromosomal position

10261652

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

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