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: ENST00000399907
Querying Taster for transcript #2: ENST00000399909
Querying Taster for transcript #3: ENST00000389124
Querying Taster for transcript #4: ENST00000399914
Querying Taster for transcript #5: ENST00000327783
Querying Taster for transcript #6: ENST00000399913
Querying Taster for transcript #7: ENST00000389125
MT speed 0.14 s - this script 2.529971 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000399907	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000399909	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000389124	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000399914	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000327783(MANE Select)	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000399913	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000389125	GRIK1	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

21:29611955C>G_1_ENST00000399907

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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.56, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000399907.6

Genbank transcript ID

NM_001393426 (by similarity), NM_000830 (by similarity), NM_001393425 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKAAGEVSKH LYKVWKKIGI
WNSNSGLNMT DSNKDKSSNI TDSLANRTLI VTTILEEPYV MYRKSDKPLY GNDRFEGYCL
DLLKELSNIL GFIYDVKLVP DGKYGAQNDK GEWNGMVKEL IDHRADLAVA PLTITYVREK
VIDFSKPFMT LGISILYRKP NGTNPGVFSF LNPLSPDIWM YVLLACLGVS CVLFVIARFT
PYEWYNPHPC NPDSDVVENN FTLLNSFWFG VGALMQQGSE LMPKALSTRI VGGIWWFFTL
IIISSYTANL AAFLTVERME SPIDSADDLA KQTKIEYGAV RDGSTMTFFK KSKISTYEKM
WAFMSSRQQT ALVRNSDEGI QRVLTTDYAL LMESTSIEYV TQRNCNLTQI GGLIDSKGYG
VGTPIGSPYR DKITIAILQL QEEGKLHMMK EKWWRGNGCP EEDNKEASAL GVENIGGIFI
VLAAGLVLSV FVAIGEFIYK SRKNNDIEQA FCFFYGLQCK QTHPTNSTSG TTLSTDLECG
KLIREERGIR KQSSVHTV*

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

497 / 497

Last intron/exon boundary

3103

Theoretical NMD boundary in CDS

2556

Length of CDS

2757

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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:

21:29611955C>G_2_ENST00000399909

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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.56, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000399909.5

Genbank transcript ID

NM_001410706 (by similarity), NM_001393424 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKIGIWNSNS GLNMTDSNKD
KSSNITDSLA NRTLIVTTIL EEPYVMYRKS DKPLYGNDRF EGYCLDLLKE LSNILGFIYD
VKLVPDGKYG AQNDKGEWNG MVKELIDHRA DLAVAPLTIT YVREKVIDFS KPFMTLGISI
LYRKPNGTNP GVFSFLNPLS PDIWMYVLLA CLGVSCVLFV IARFTPYEWY NPHPCNPDSD
VVENNFTLLN SFWFGVGALM QQGSELMPKA LSTRIVGGIW WFFTLIIISS YTANLAAFLT
VERMESPIDS ADDLAKQTKI EYGAVRDGST MTFFKKSKIS TYEKMWAFMS SRQQTALVRN
SDEGIQRVLT TDYALLMEST SIEYVTQRNC NLTQIGGLID SKGYGVGTPI GSPYRDKITI
AILQLQEEGK LHMMKEKWWR GNGCPEEDNK EASALGVENI GGIFIVLAAG LVLSVFVAIG
EFIYKSRKNN DIEQAFCFFY GLQCKQTHPT NSTSGTTLST DLECGKLIRE ERGIRKQSSV
HTV*

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

413 / 413

Last intron/exon boundary

2974

Theoretical NMD boundary in CDS

2511

Length of CDS

2712

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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:

21:29611955C>G_3_ENST00000389124

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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.55, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000389124.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKAAGEVSKH LYKVWKKIGI
WNSNSGLNMT DSNKDKSSNI TDSLANRTLI VTTILEEPYV MYRKSDKPLY GNDRFEGYCL
DLLKELSNIL GFIYDVKLVP DGKYGAQNDK GEWNGMVKEL IDHRADLAVA PLTITYVREK
VIDFSKPFMT LGISILYRKP NGTNPGVFSF LNPLSPDIWM YVLLACLGVS CVLFVIARFT
PYEWYNPHPC NPDSDVVENN FTLLNSFWFG VGALMQQGSE LMPKALSTRI VGGIWWFFTL
IIISSYTANL AAFLTVERME SPIDSADDLA KQTKIEYGAV RDGSTMTFFK KSKISTYEKM
WAFMSSRQQT ALVRNSDEGI QRVLTTDYAL LMESTSIEYV TQRNCNLTQI GGLIDSKGYG
VGTPIGSPYR DKITIAILQL QEEGKLHMMK EKWWRGNGCP EEDNKEASAL GVENIGGIFI
VLAAGLVLSV FVAIGEFIYK SRKNNDIEQH Y*

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

33 / 33

Last intron/exon boundary

2639

Theoretical NMD boundary in CDS

2556

Length of CDS

2616

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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:

21:29611955C>G_4_ENST00000399914

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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.55, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000399914.5

Genbank transcript ID

NM_001330993 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKIGIWNSNS GLNMTDSNKD
KSSNITDSLA NRTLIVTTIL EEPYVMYRKS DKPLYGNDRF EGYCLDLLKE LSNILGFIYD
VKLVPDGKYG AQNDKGEWNG MVKELIDHRA DLAVAPLTIT YVREKVIDFS KPFMTLGISI
LYRKPNGTNP GVFSFLNPLS PDIWMYVLLA CLGVSCVLFV IARFTPYEWY NPHPCNPDSD
VVENNFTLLN SFWFGVGALM QQGSELMPKA LSTRIVGGIW WFFTLIIISS YTANLAAFLT
VERMESPIDS ADDLAKQTKI EYGAVRDGST MTFFKKSKIS TYEKMWAFMS SRQQTALVRN
SDEGIQRVLT TDYALLMEST SIEYVTQRNC NLTQIGGLID SKGYGVGTPI GSPYRDKITI
AILQLQEEGK LHMMKEKWWR GNGCPEEDNK EASALGVENI GGIFIVLAAG LVLSVFVAIG
EFIYKSRKNN DIEQKGKSSR IRFYFRNKVR FHGRKKQSLG VEKCLSFNAI MEELGISLKN
QKKIKKKSRT KGKSSFTSIL TCHQRRTQRK ETVA*

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

523 / 523

Last intron/exon boundary

3171

Theoretical NMD boundary in CDS

2598

Length of CDS

2805

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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:

21:29611955C>G_5_ENST00000327783

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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.55, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000327783.9

Genbank transcript ID

NM_001330994 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKAAGEVSKH LYKVWKKIGI
WNSNSGLNMT DSNKDKSSNI TDSLANRTLI VTTILEEPYV MYRKSDKPLY GNDRFEGYCL
DLLKELSNIL GFIYDVKLVP DGKYGAQNDK GEWNGMVKEL IDHRADLAVA PLTITYVREK
VIDFSKPFMT LGISILYRKP NGTNPGVFSF LNPLSPDIWM YVLLACLGVS CVLFVIARFT
PYEWYNPHPC NPDSDVVENN FTLLNSFWFG VGALMQQGSE LMPKALSTRI VGGIWWFFTL
IIISSYTANL AAFLTVERME SPIDSADDLA KQTKIEYGAV RDGSTMTFFK KSKISTYEKM
WAFMSSRQQT ALVRNSDEGI QRVLTTDYAL LMESTSIEYV TQRNCNLTQI GGLIDSKGYG
VGTPIGSPYR DKITIAILQL QEEGKLHMMK EKWWRGNGCP EEDNKEASAL GVENIGGIFI
VLAAGLVLSV FVAIGEFIYK SRKNNDIEQK GKSSRIRFYF RNKVRFHGRK KQSLGVEKCL
SFNAIMEELG ISLKNQKKIK KKSRTKGKSS FTSILTCHQR RTQRKETVA*

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

497 / 497

Last intron/exon boundary

3190

Theoretical NMD boundary in CDS

2643

Length of CDS

2850

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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:

21:29611955C>G_6_ENST00000399913

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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.55, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000399913.5

Genbank transcript ID

NM_001320616 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKAAGEVSKH LYKVWKKIGI
WNSNSGLNMT DSNKDKSSNI TDSLANRTLI VTTILEEPYV MYRKSDKPLY GNDRFEGYCL
DLLKELSNIL GFIYDVKLVP DGKYGAQNDK GEWNGMVKEL IDHRADLAVA PLTITYVREK
VIDFSKPFMT LGISILYRKP NGTNPGVFSF LNPLSPDIWM YVLLACLGVS CVLFVIARFT
PYEWYNPHPC NPDSDVVENN FTLLNSFWFG VGALMQQGSE LMPKALSTRI VGGIWWFFTL
IIISSYTANL AAFLTVERME SPIDSADDLA KQTKIEYGAV RDGSTMTFFK KSKISTYEKM
WAFMSSRQQT ALVRNSDEGI QRVLTTDYAL LMESTSIEYV TQRNCNLTQI GGLIDSKGYG
VGTPIGSPYR DKITIAILQL QEEGKLHMMK EKWWRGNGCP EEDNKEASAL GVENIGGIFI
VLAAGLVLSV FVAIGEFIYK SRKNNDIEQC LSFNAIMEEL GISLKNQKKI KKKSRTKGKS
SFTSILTCHQ RRTQRKETVA *

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

175 / 175

Last intron/exon boundary

2781

Theoretical NMD boundary in CDS

2556

Length of CDS

2763

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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:

21:29611955C>G_7_ENST00000389125

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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

Chr21:29611955C>G (GRCh38)

Gene symbol

GRIK1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.55, misssense (oe): 0.89, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000389125.7

Genbank transcript ID

NM_001320621 (by similarity), NM_001320618 (by similarity), NM_175611 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1099-13018G>C
g.328079G>C

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	rs363449
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	26076	30959	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.828	0.014
	0.249	0.008
(flanking)	0.523	0.005

?

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

21

Strand

-1

Original gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTGTAAATGGAACCCAGCAGATC

Altered gDNA sequence snippet

AGCAGAGGCTCTTTGTCTTTCTAAATGGAACCCAGCAGATC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEHGTLLAQP GLWTRDTSWA LLYFLCYILP QTAPQVLRIG GIFETVENEP VNVEELAFKF
AVTSINRNRT LMPNTTLTYD IQRINLFDSF EASRRACDQL ALGVAALFGP SHSSSVSAVQ
SICNALEVPH IQTRWKHPSV DNKDLFYINL YPDYAAISRA ILDLVLYYNW KTVTVVYEDS
TGLIRLQELI KAPSRYNIKI KIRQLPSGNK DAKPLLKEMK KGKEFYVIFD CSHETAAEIL
KQILFMGMMT EYYHYFFTTL DLFALDLELY RYSGVNMTGF RLLNIDNPHV SSIIEKWSME
RLQAPPRPET GLLDGMMTTE AALMYDAVYM VAIASHRASQ LTVSSLQCHR HKPWRLGPRF
MNLIKEARWD GLTGHITFNK TNGLRKDFDL DIISLKEEGT EKIGIWNSNS GLNMTDSNKD
KSSNITDSLA NRTLIVTTIL EEPYVMYRKS DKPLYGNDRF EGYCLDLLKE LSNILGFIYD
VKLVPDGKYG AQNDKGEWNG MVKELIDHRA DLAVAPLTIT YVREKVIDFS KPFMTLGISI
LYRKPNGTNP GVFSFLNPLS PDIWMYVLLA CLGVSCVLFV IARFTPYEWY NPHPCNPDSD
VVENNFTLLN SFWFGVGALM QQGSELMPKA LSTRIVGGIW WFFTLIIISS YTANLAAFLT
VERMESPIDS ADDLAKQTKI EYGAVRDGST MTFFKKSKIS TYEKMWAFMS SRQQTALVRN
SDEGIQRVLT TDYALLMEST SIEYVTQRNC NLTQIGGLID SKGYGVGTPI GSPYRDKITI
AILQLQEEGK LHMMKEKWWR GNGCPEEDNK EASALGVENI GGIFIVLAAG LVLSVFVAIG
EFIYKSRKNN DIEQCLSFNA IMEELGISLK NQKKIKKKSR TKGKSSFTSI LTCHQRRTQR
KETVA*

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

126 / 126

Last intron/exon boundary

2687

Theoretical NMD boundary in CDS

2511

Length of CDS

2718

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

328079

Chromosomal position

29611955

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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