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: ENST00000651955
Querying Taster for transcript #2: ENST00000372954
Querying Taster for transcript #3: ENST00000372938
Querying Taster for transcript #4: ENST00000357558
Querying Taster for transcript #5: ENST00000538431
Querying Taster for transcript #6: ENST00000629610
Querying Taster for transcript #7: ENST00000634901
Querying Taster for transcript #8: ENST00000277465
Querying Taster for transcript #9: ENST00000372948
MT speed 0.19 s - this script 2.555938 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000372954	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000372938(MANE Select)	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000357558	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000538431	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000629610	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000634901	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000277465	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000372948	CIZ1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000651955	CIZ1	Benign	1\|199	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

9:128178980G>T_2_ENST00000372954

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.73, LOF (oe): 0.58, misssense (oe): 0.84, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000372954.5

Genbank transcript ID

NM_001131018 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1063-76C>A
g.25404C>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	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGNLRG YGMASPGLAA PSLTPPQLAT
PNLQQFFPQA TRQSLLGPPP VGVPMNPSQF NLSGRNPQKQ ARTSSSTTPN RKDSSSQTMP
VEDKSDPPEG SEEAAEPRMD TPEDQDLPPC PEDIAKEKRT PAPEPEPCEA SELPAKRLRS
SEEPTEKEPP GQLQVKAQPQ ARMTVPKQTQ TPDLLPEALE AQVLPRFQPR VLQVQAQVQS
QTQPRIPSTD TQVQPKLQKQ AQTQTSPEHL VLQQKQVQPQ LQQEAEPQKQ VQPQVHTQAQ
PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG
MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA
FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR
LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK
QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF
EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI
CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF
TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT*

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

143 / 143

Last intron/exon boundary

2389

Theoretical NMD boundary in CDS

2196

Length of CDS

2457

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

25404

Chromosomal position

128178980

Speed

0.03 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:

9:128178980G>T_3_ENST00000372938

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.69, LOF (oe): 0.55, misssense (oe): 0.84, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000372938.10

Genbank transcript ID

NM_001131016 (exact from MANE), NM_012127 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1227C>A
g.25404C>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

No

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ
LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP
VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG
VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA
SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ
LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE
KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE
TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT
TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT*

Mutated AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ
LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP
VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG
VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA
SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ
LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE
KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE
TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT
TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT*

Position of stopcodon in wt / mu CDS

2697 / 2697

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

899 / 899

Position of stopcodon in wt / mu cDNA

2843 / 2843

Position of start ATG in wt / mu cDNA

147 / 147

Last intron/exon boundary

2633

Theoretical NMD boundary in CDS

2436

Length of CDS

2697

Coding sequence (CDS) position

1227

cDNA position

1373

gDNA position

25404

Chromosomal position

128178980

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

Back to summary table

MutationT@ster 2025

Variant:

9:128178980G>T_4_ENST00000357558

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.70, LOF (oe): 0.57, misssense (oe): 0.84, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000357558.9

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1218+9C>A
g.25404C>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	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVHTQ AQPSVQPQEH
PPAQVSVQPP EQTHEQPHTQ PQVSLLAPEQ TPVVVHVCGL EMPPDAVEAG GGMEKTLPEP
VGTQVSMEEI QNESACGLDV GECENRAREM PGVWGAGGSL KVTILQSSDS RAFSTVPLTP
VPRPSDSVSS TPAATSTPSK QALQFFCYIC KASCSSQQEF QDHMSEPQHQ QRLGEIQHMS
QACLLSLLPV PRDVLETEDE EPPPRRWCNT CQLYYMGDLI QHRRTQDHKI AKQSLRPFCT
VCNRYFKTPR KFVEHVKSQG HKDKAKELKS LEKEIAGQDE DHFITVDAVG CFEGDEEEEE
DDEDEEEIEV EEELCKQVRS RDISREEWKG SETYSPNTAY GVDFLVPVMG YICRICHKFY
HSNSGAQLSH CKSLGHFENL QKYKAAKNPS PTTRPVSRRC AINARNALTA LFTSSGRPPS
QPNTQDKTPS KVTARPSQPP LPRRSTRLKT *

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

164 / 164

Last intron/exon boundary

2566

Theoretical NMD boundary in CDS

2352

Length of CDS

2613

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

25404

Chromosomal position

128178980

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

Back to summary table

MutationT@ster 2025

Variant:

9:128178980G>T_5_ENST00000538431

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.69, LOF (oe): 0.56, misssense (oe): 0.87, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000538431.5

Genbank transcript ID

NM_001257975 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1317C>A
g.25404C>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

No

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Wildtype AA sequence

MYIRQLRAPS HRSPARGPRI AGPRRPQGAT MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL
QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL
LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF
FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD
PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE
KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI
PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ
VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP
AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG
TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP
RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA
CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKPPT PRRDVFAHVP
VQGWSTARLV TDMIAKQSLR PFCTVCNRYF KTPRKFVEHV KSQGHKDKAK ELKSLEKEIA
GQDEDHFITV DAVGCFEGDE EEEEDDEDEE EIEVEEELCK QVRSRDISRE EWKGSETYSP
NTAYGVDFLV PVMGYICRIC HKFYHSNSGA QLSHCKSLGH FENLQKYKAA KNPSPTTRPV
SRRCAINARN ALTALFTSSG RPPSQPNTQD KTPSKVTARP SQPPLPRRST RLKT*

Mutated AA sequence

MYIRQLRAPS HRSPARGPRI AGPRRPQGAT MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL
QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL
LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF
FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD
PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE
KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI
PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ
VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP
AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG
TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP
RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA
CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKPPT PRRDVFAHVP
VQGWSTARLV TDMIAKQSLR PFCTVCNRYF KTPRKFVEHV KSQGHKDKAK ELKSLEKEIA
GQDEDHFITV DAVGCFEGDE EEEEDDEDEE EIEVEEELCK QVRSRDISRE EWKGSETYSP
NTAYGVDFLV PVMGYICRIC HKFYHSNSGA QLSHCKSLGH FENLQKYKAA KNPSPTTRPV
SRRCAINARN ALTALFTSSG RPPSQPNTQD KTPSKVTARP SQPPLPRRST RLKT*

Position of stopcodon in wt / mu CDS

2865 / 2865

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

955 / 955

Position of stopcodon in wt / mu cDNA

2865 / 2865

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

2655

Theoretical NMD boundary in CDS

2604

Length of CDS

2865

Coding sequence (CDS) position

1317

cDNA position

1317

gDNA position

25404

Chromosomal position

128178980

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

Back to summary table

MutationT@ster 2025

Variant:

9:128178980G>T_6_ENST00000629610

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.63, LOF (oe): 0.49, misssense (oe): 0.82, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000629610.2

Genbank transcript ID

NM_001257976 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.924C>A
g.25404C>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

No

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Wildtype AA sequence

MPPATYDTAG LTMPTATLGN LRGYGMASPG LAAPSLTPPQ LATPNLQQFF PQATRQSLLG
PPPVGVPMNP SQFNLSGRNP QKQARTSSST TPNRKDSSSQ TMPVEDKSDP PEGSEEAAEP
RMDTPEDQDL PPCPEDIAKE KRTPAPEPEP CEASELPAKR LRSSEEPTEK EPPGQLQVKA
QPQARMTVPK QTQTPDLLPE ALEAQVLPRF QPRVLQVQAQ VQSQTQPRIP STDTQVQPKL
QKQAQTQTSP EHLVLQQKQV QPQLQQEAEP QKQVQPQVQP QAHSQGPRQV QLQQEAEPLK
QVQPQVQPQA HSQPPRQVQL QLQKQVQTQT YPQVHTQAQP SVQPQEHPPA QVSVQPPEQT
HEQPHTQPQV SLLAPEQTPV VVHVCGLEMP PDAVEAGGGM EKTLPEPVGT QVSMEEIQNE
SACGLDVGEC ENRAREMPGV WGAGGSLKVT ILQSSDSRAF STVPLTPVPR PSDSVSSTPA
ATSTPSKQAL QFFCYICKAS CSSQQEFQDH MSEPQHQQRL GEIQHMSQAC LLSLLPVPRD
VLETEDEEPP PRRWCNTCQL YYMGDLIQHR RTQDHKIAKQ SLRPFCTVCN RYFKTPRKFV
EHVKSQGHKD KAKELKSLEK EIAGQDEDHF ITVDAVGCFE GDEEEEEDDE DEEEIEVEEE
LCKQVRSRDI SREEWKGSET YSPNTAYGVD FLVPVMGYIC RICHKFYHSN SGAQLSHCKS
LGHFENLQKY KAAKNPSPTT RPVSRRCAIN ARNALTALFT SSGRPPSQPN TQDKTPSKVT
ARPSQPPLPR RSTRLKT*

Mutated AA sequence

MPPATYDTAG LTMPTATLGN LRGYGMASPG LAAPSLTPPQ LATPNLQQFF PQATRQSLLG
PPPVGVPMNP SQFNLSGRNP QKQARTSSST TPNRKDSSSQ TMPVEDKSDP PEGSEEAAEP
RMDTPEDQDL PPCPEDIAKE KRTPAPEPEP CEASELPAKR LRSSEEPTEK EPPGQLQVKA
QPQARMTVPK QTQTPDLLPE ALEAQVLPRF QPRVLQVQAQ VQSQTQPRIP STDTQVQPKL
QKQAQTQTSP EHLVLQQKQV QPQLQQEAEP QKQVQPQVQP QAHSQGPRQV QLQQEAEPLK
QVQPQVQPQA HSQPPRQVQL QLQKQVQTQT YPQVHTQAQP SVQPQEHPPA QVSVQPPEQT
HEQPHTQPQV SLLAPEQTPV VVHVCGLEMP PDAVEAGGGM EKTLPEPVGT QVSMEEIQNE
SACGLDVGEC ENRAREMPGV WGAGGSLKVT ILQSSDSRAF STVPLTPVPR PSDSVSSTPA
ATSTPSKQAL QFFCYICKAS CSSQQEFQDH MSEPQHQQRL GEIQHMSQAC LLSLLPVPRD
VLETEDEEPP PRRWCNTCQL YYMGDLIQHR RTQDHKIAKQ SLRPFCTVCN RYFKTPRKFV
EHVKSQGHKD KAKELKSLEK EIAGQDEDHF ITVDAVGCFE GDEEEEEDDE DEEEIEVEEE
LCKQVRSRDI SREEWKGSET YSPNTAYGVD FLVPVMGYIC RICHKFYHSN SGAQLSHCKS
LGHFENLQKY KAAKNPSPTT RPVSRRCAIN ARNALTALFT SSGRPPSQPN TQDKTPSKVT
ARPSQPPLPR RSTRLKT*

Position of stopcodon in wt / mu CDS

2394 / 2394

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

798 / 798

Position of stopcodon in wt / mu cDNA

2727 / 2727

Position of start ATG in wt / mu cDNA

334 / 334

Last intron/exon boundary

2517

Theoretical NMD boundary in CDS

2133

Length of CDS

2394

Coding sequence (CDS) position

924

cDNA position

1257

gDNA position

25404

Chromosomal position

128178980

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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MutationT@ster 2025

Variant:

9:128178980G>T_7_ENST00000634901

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.69, LOF (oe): 0.55, misssense (oe): 0.84, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000634901.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1227C>A
g.25404C>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

No

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered cDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ
LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP
VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG
VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA
SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ
LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE
KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE
TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT
TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT*

Mutated AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ
LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP
VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG
VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA
SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ
LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE
KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE
TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT
TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT*

Position of stopcodon in wt / mu CDS

2697 / 2697

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

899 / 899

Position of stopcodon in wt / mu cDNA

3354 / 3354

Position of start ATG in wt / mu cDNA

658 / 658

Last intron/exon boundary

3144

Theoretical NMD boundary in CDS

2436

Length of CDS

2697

Coding sequence (CDS) position

1227

cDNA position

1884

gDNA position

25404

Chromosomal position

128178980

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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MutationT@ster 2025

Variant:

9:128178980G>T_8_ENST00000277465

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.70, LOF (oe): 0.57, misssense (oe): 0.84, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000277465.8

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1218+9C>A
g.25404C>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	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVHTQ AQPSVQPQEH
PPAQVSVQPP EQTHEQPHTQ PQVSLLAPEQ TPVVVHVCGL EMPPDAVEAG GGMEKTLPEP
VGTQVSMEEI QNESACGLDV GECENRAREM PGVWGAGGSL KVTILQSSDS RAFSTVPLTP
VPRPSDSVSS TPAATSTPSK QALQFFCYIC KASCSSQQEF QDHMSEPQHQ QRLGEIQHMS
QACLLSLLPV PRDVLETEDE EPPPRRWCNT CQLYYMGDLI QHRRTQDHKI AKQSLRPFCT
VCNRYFKTPR KFVEHVKSQG HKDKAKELKS LEKEIAGQDE DHFITVDAVG CFEGDEEEEE
DDEDEEEIEV EEELCKQVRS RDISREEWKG SETYSPNTAY GVDFLVPVMG YICRICHKFY
HSNSGAQLSH CKSLGHFENL QKYKAAKNPS PTTRPVSRRC AINARNALTA LFTSSGRPPS
QPNTQDKTPS KVTARPSQPP LPRRSTRLKT *

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

4 / 4

Last intron/exon boundary

2406

Theoretical NMD boundary in CDS

2352

Length of CDS

2613

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

25404

Chromosomal position

128178980

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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MutationT@ster 2025

Variant:

9:128178980G>T_9_ENST00000372948

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.73, LOF (oe): 0.58, misssense (oe): 0.85, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000372948.7

Genbank transcript ID

NM_001131015 (by similarity), NM_001131017 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1135-76C>A
g.25404C>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	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK
EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ
VQPQLQQEAE PQKQVQPQVH TQAQPSVQPQ EHPPAQVSVQ PPEQTHEQPH TQPQVSLLAP
EQTPVVVHVC GLEMPPDAVE AGGGMEKTLP EPVGTQVSME EIQNESACGL DVGECENRAR
EMPGVWGAGG SLKVTILQSS DSRAFSTVPL TPVPRPSDSV SSTPAATSTP SKQALQFFCY
ICKASCSSQQ EFQDHMSEPQ HQQRLGEIQH MSQACLLSLL PVPRDVLETE DEEPPPRRWC
NTCQLYYMGD LIQHRRTQDH KIAKQSLRPF CTVCNRYFKT PRKFVEHVKS QGHKDKAKEL
KSLEKEIAGQ DEDHFITVDA VGCFEGDEEE EEDDEDEEEI EVEEELCKQV RSRDISREEW
KGSETYSPNT AYGVDFLVPV MGYICRICHK FYHSNSGAQL SHCKSLGHFE NLQKYKAAKN
PSPTTRPVSR RCAINARNAL TALFTSSGRP PSQPNTQDKT PSKVTARPSQ PPLPRRSTRL
KT*

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

204 / 204

Last intron/exon boundary

2522

Theoretical NMD boundary in CDS

2268

Length of CDS

2529

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

25404

Chromosomal position

128178980

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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MutationT@ster 2025

Variant:

9:128178980G>T_1_ENST00000651955

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr9:128178980G>T (GRCh38)

Gene symbol

CIZ1

Gene constraints

LOEUF: 0.71, LOF (oe): 0.57, misssense (oe): 0.84, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000651955.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1120-76C>A
g.25404C>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	rs45559035
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	394	10731	11125

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.041	0.002
	-7.87	0
(flanking)	-1.139	0

?

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

9

Strand

-1

Original gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCCCAGGCACATTCACAGCCCCC

Altered gDNA sequence snippet

GTGCAGCCACAGGTGCAGCCACAGGCACATTCACAGCCCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP
PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG
NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN
PQKQARTSSS TTPNRKTMPV EDKSDPPEGS EEAAEPRMDT PEDQDLPPCP EDIAKEKRTP
APEPEPCEAS ELPAKRLRSS EEPTEKEPPG QLQVKAQPQA RMTVPKQTQT PDLLPEALEA
QVLPRFQPRV LQVQAQVQSQ TQPRIPSTDT QVQPKLQKQA QTQTSPEHLV LQQKQVQPQL
QQEAEPQKQV QPQVHTQAQP SVQPQEHPPA QVSVQPPEQT HEQPHTQPQV SLLAPEQTPV
VVHVCGLEMP PDAVEAGGGM EKTLPEPVGT QVSMEEIQNE SACGLDVGEC ENRAREMPGV
WGAGGSLKVT ILQSSDSRAF STVPLTPVPR PSDSVSSTPA ATSTPSKQAL QFFCYICKAS
CSSQQEFQDH MSEPQHQQRL GEIQHMSQAC LLSLLPVPRD VLETEDEEPP PRRWCNTCQL
YYMGDLIQHR RTQDHKIAKQ SLRPFCTVCN RYFKTPRKFV EHVKSQGHKD KAKELKSLEK
EIAGQDEDHF ITVDAVGCFE GDEEEEEDDE DEEEIEVEEE LCKQVRSRDI SREEWKGSET
YSPNTAYGVD FLVPVMGYIC RICHKFYHSN SGAQLSHCKS LGHFENLQKY KAAKNPSPTT
RPVSRRCAIN ARNALTALFT SSGRPPSQPN TQDKTPSKAL *

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

109 / 109

Last intron/exon boundary

2562

Theoretical NMD boundary in CDS

2403

Length of CDS

2463

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

25404

Chromosomal position

128178980

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

Back to summary table