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: ENST00000616590
Querying Taster for transcript #2: ENST00000620443
Querying Taster for transcript #3: ENST00000622768
Querying Taster for transcript #4: ENST00000611689
MT speed 0.15 s - this script 2.547039 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
ENST00000620443(MANE Select)	GRIA3	Deleterious	64\|36	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000616590	GRIA3	Deleterious	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000622768(MANE Select)	GRIA3	Deleterious	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000611689	GRIA3	Deleterious	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

23:123184578G>A_2_ENST00000620443

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 64|36 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:123184578G>A (GRCh38)

Gene symbol

GRIA3

Gene constraints

no data

Ensembl transcript ID

ENST00000620443.2

Genbank transcript ID

NM_007325 (exact from MANE)

UniProt / AlphaMissense peptide

GRIA3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.43G>A
g.426G>A

AA changes

AAE:	V15I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs140014006
gnomAD	homo-/hemizygous (A/A)	heterozygous	allele carriers
	8	20	28

Protein conservation

Species	Match	AA	Alignment
Human		15	Q	K	K	M	G	Q	S	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S	H
mutated	all conserved	15	Q	K	K	M	G	Q	S	V	L	R	A	I	F	F	L	V	L	G	L	L	G	H	S
Ptroglodytes	all identical	15	Q	K	K	M	G	Q	S	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S
Mmulatta	all identical	15	Q	K	K	M	G	Q	N	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S
Fcatus	all identical	15	Q	K	K	M	G	Q	N	V	L	R	A	V	F	L	L	V	L	G	L	L	G	H	S
Mmusculus	all identical	9				M	G	Q	S	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S
Ggallus	all identical	9				M	G	Q	R	A	G	R	A	V	L	L	L	L	A	G	L	L	G	E	A
Trubripes	not conserved	909	G	K	M	W	H	R	T	V	-	-	A	T	V	L	L	L	L	R	F	W	G	D	A
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	28	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

1

Original gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Original cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Wildtype AA sequence

MARQKKMGQS VLRAVFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAF CSQFSRGVYA IFGFYDQMSM NTLTSFCGAL
HTSFVTPSFP TDADVQFVIQ MRPALKGAIL SLLGHYKWEK FVYLYDTERG FSILQAIMEA
AVQNNWQVTA RSVGNIKDVQ EFRRIIEEMD RRQEKRYLID CEVERINTIL EQVVILGKHS
RGYHYMLANL GFTDILLERV MHGGANITGF QIVNNENPMV QQFIQRWVRL DEREFPEAKN
APLKYTSALT HDAILVIAEA FRYLRRQRVD VSRRGSAGDC LANPAVPWSQ GIDIERALKM
VQVQGMTGNI QFDTYGRRTN YTIDVYEMKV SGSRKAGYWN EYERFVPFSD QQISNDSASS
ENRTIVVTTI LESPYVMYKK NHEQLEGNER YEGYCVDLAY EIAKHVRIKY KLSIVGDGKY
GARDPETKIW NGMVGELVYG RADIAVAPLT ITLVREEVID FSKPFMSLGI SIMIKKPQKS
KPGVFSFLDP LAYEIWMCIV FAYIGVSVVL FLVSRFSPYE WHLEDNNEEP RDPQSPPDPP
NEFGIFNSLW FSLGAFMQQG CDISPRSLSG RIVGGVWWFF TLIIISSYTA NLAAFLTVER
MVSPIESAED LAKQTEIAYG TLDSGSTKEF FRRSKIAVYE KMWSYMKSAE PSVFTKTTAD
GVARVRKSKG KFAFLLESTM NEYIEQRKPC DTMKVGGNLD SKGYGVATPK GSALRTPVNL
AVLKLSEQGI LDKLKNKWWY DKGECGAKDS GSKDKTSALS LSNVAGVFYI LVGGLGLAMM
VALIEFCYKS RAESKRMKLT KNTQNFKPAP ATNTQNYATY REGYNVYGTE SVKI*

Mutated AA sequence

MARQKKMGQS VLRAIFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAF CSQFSRGVYA IFGFYDQMSM NTLTSFCGAL
HTSFVTPSFP TDADVQFVIQ MRPALKGAIL SLLGHYKWEK FVYLYDTERG FSILQAIMEA
AVQNNWQVTA RSVGNIKDVQ EFRRIIEEMD RRQEKRYLID CEVERINTIL EQVVILGKHS
RGYHYMLANL GFTDILLERV MHGGANITGF QIVNNENPMV QQFIQRWVRL DEREFPEAKN
APLKYTSALT HDAILVIAEA FRYLRRQRVD VSRRGSAGDC LANPAVPWSQ GIDIERALKM
VQVQGMTGNI QFDTYGRRTN YTIDVYEMKV SGSRKAGYWN EYERFVPFSD QQISNDSASS
ENRTIVVTTI LESPYVMYKK NHEQLEGNER YEGYCVDLAY EIAKHVRIKY KLSIVGDGKY
GARDPETKIW NGMVGELVYG RADIAVAPLT ITLVREEVID FSKPFMSLGI SIMIKKPQKS
KPGVFSFLDP LAYEIWMCIV FAYIGVSVVL FLVSRFSPYE WHLEDNNEEP RDPQSPPDPP
NEFGIFNSLW FSLGAFMQQG CDISPRSLSG RIVGGVWWFF TLIIISSYTA NLAAFLTVER
MVSPIESAED LAKQTEIAYG TLDSGSTKEF FRRSKIAVYE KMWSYMKSAE PSVFTKTTAD
GVARVRKSKG KFAFLLESTM NEYIEQRKPC DTMKVGGNLD SKGYGVATPK GSALRTPVNL
AVLKLSEQGI LDKLKNKWWY DKGECGAKDS GSKDKTSALS LSNVAGVFYI LVGGLGLAMM
VALIEFCYKS RAESKRMKLT KNTQNFKPAP ATNTQNYATY REGYNVYGTE SVKI*

Position of stopcodon in wt / mu CDS

2685 / 2685

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

895 / 895

Position of stopcodon in wt / mu cDNA

2943 / 2943

Position of start ATG in wt / mu cDNA

259 / 259

Last intron/exon boundary

2945

Theoretical NMD boundary in CDS

2636

Length of CDS

2685

Coding sequence (CDS) position

43

cDNA position

301

gDNA position

426

Chromosomal position

123184578

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:

23:123184578G>A_1_ENST00000616590

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:123184578G>A (GRCh38)

Gene symbol

GRIA3

Gene constraints

no data

Ensembl transcript ID

ENST00000616590.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.43G>A
g.426G>A

AA changes

AAE:	V15I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs140014006
gnomAD	homo-/hemizygous (A/A)	heterozygous	allele carriers
	8	20	28

Protein conservation

Species	Match	AA	Alignment
Human		15	Q	K	K	M	G	Q	S	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S	H
mutated	all conserved	15	Q	K	K	M	G	Q	S	V	L	R	A	I	F	F	L	V	L	G	L	L	G	H	S
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

?

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

23

Strand

1

Original gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Original cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Wildtype AA sequence

MARQKKMGQS VLRAVFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAC PAERDYLPWP GSIRENNWTA LPCCKDHGLL
HLKCSPGGAR QNWAYCIWGV TGEL*

Mutated AA sequence

MARQKKMGQS VLRAIFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAC PAERDYLPWP GSIRENNWTA LPCCKDHGLL
HLKCSPGGAR QNWAYCIWGV TGEL*

Position of stopcodon in wt / mu CDS

435 / 435

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

145 / 145

Position of stopcodon in wt / mu cDNA

520 / 520

Position of start ATG in wt / mu cDNA

86 / 86

Last intron/exon boundary

500

Theoretical NMD boundary in CDS

364

Length of CDS

435

Coding sequence (CDS) position

43

cDNA position

128

gDNA position

426

Chromosomal position

123184578

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:

23:123184578G>A_3_ENST00000622768

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:123184578G>A (GRCh38)

Gene symbol

GRIA3

Gene constraints

no data

Ensembl transcript ID

ENST00000622768.5

Genbank transcript ID

NM_000828 (exact from MANE)

UniProt / AlphaMissense peptide

GRIA3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.43G>A
g.426G>A

AA changes

AAE:	V15I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs140014006
gnomAD	homo-/hemizygous (A/A)	heterozygous	allele carriers
	8	20	28

Protein conservation

Species	Match	AA	Alignment
Human		15	Q	K	K	M	G	Q	S	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S	H
mutated	all conserved	15	Q	K	K	M	G	Q	S	V	L	R	A	I	F	F	L	V	L	G	L	L	G	H	S
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	28	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

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

23

Strand

1

Original gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Original cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Wildtype AA sequence

MARQKKMGQS VLRAVFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAF CSQFSRGVYA IFGFYDQMSM NTLTSFCGAL
HTSFVTPSFP TDADVQFVIQ MRPALKGAIL SLLGHYKWEK FVYLYDTERG FSILQAIMEA
AVQNNWQVTA RSVGNIKDVQ EFRRIIEEMD RRQEKRYLID CEVERINTIL EQVVILGKHS
RGYHYMLANL GFTDILLERV MHGGANITGF QIVNNENPMV QQFIQRWVRL DEREFPEAKN
APLKYTSALT HDAILVIAEA FRYLRRQRVD VSRRGSAGDC LANPAVPWSQ GIDIERALKM
VQVQGMTGNI QFDTYGRRTN YTIDVYEMKV SGSRKAGYWN EYERFVPFSD QQISNDSASS
ENRTIVVTTI LESPYVMYKK NHEQLEGNER YEGYCVDLAY EIAKHVRIKY KLSIVGDGKY
GARDPETKIW NGMVGELVYG RADIAVAPLT ITLVREEVID FSKPFMSLGI SIMIKKPQKS
KPGVFSFLDP LAYEIWMCIV FAYIGVSVVL FLVSRFSPYE WHLEDNNEEP RDPQSPPDPP
NEFGIFNSLW FSLGAFMQQG CDISPRSLSG RIVGGVWWFF TLIIISSYTA NLAAFLTVER
MVSPIESAED LAKQTEIAYG TLDSGSTKEF FRRSKIAVYE KMWSYMKSAE PSVFTKTTAD
GVARVRKSKG KFAFLLESTM NEYIEQRKPC DTMKVGGNLD SKGYGVATPK GSALRNAVNL
AVLKLNEQGL LDKLKNKWWY DKGECGSGGG DSKDKTSALS LSNVAGVFYI LVGGLGLAMM
VALIEFCYKS RAESKRMKLT KNTQNFKPAP ATNTQNYATY REGYNVYGTE SVKI*

Mutated AA sequence

MARQKKMGQS VLRAIFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAF CSQFSRGVYA IFGFYDQMSM NTLTSFCGAL
HTSFVTPSFP TDADVQFVIQ MRPALKGAIL SLLGHYKWEK FVYLYDTERG FSILQAIMEA
AVQNNWQVTA RSVGNIKDVQ EFRRIIEEMD RRQEKRYLID CEVERINTIL EQVVILGKHS
RGYHYMLANL GFTDILLERV MHGGANITGF QIVNNENPMV QQFIQRWVRL DEREFPEAKN
APLKYTSALT HDAILVIAEA FRYLRRQRVD VSRRGSAGDC LANPAVPWSQ GIDIERALKM
VQVQGMTGNI QFDTYGRRTN YTIDVYEMKV SGSRKAGYWN EYERFVPFSD QQISNDSASS
ENRTIVVTTI LESPYVMYKK NHEQLEGNER YEGYCVDLAY EIAKHVRIKY KLSIVGDGKY
GARDPETKIW NGMVGELVYG RADIAVAPLT ITLVREEVID FSKPFMSLGI SIMIKKPQKS
KPGVFSFLDP LAYEIWMCIV FAYIGVSVVL FLVSRFSPYE WHLEDNNEEP RDPQSPPDPP
NEFGIFNSLW FSLGAFMQQG CDISPRSLSG RIVGGVWWFF TLIIISSYTA NLAAFLTVER
MVSPIESAED LAKQTEIAYG TLDSGSTKEF FRRSKIAVYE KMWSYMKSAE PSVFTKTTAD
GVARVRKSKG KFAFLLESTM NEYIEQRKPC DTMKVGGNLD SKGYGVATPK GSALRNAVNL
AVLKLNEQGL LDKLKNKWWY DKGECGSGGG DSKDKTSALS LSNVAGVFYI LVGGLGLAMM
VALIEFCYKS RAESKRMKLT KNTQNFKPAP ATNTQNYATY REGYNVYGTE SVKI*

Position of stopcodon in wt / mu CDS

2685 / 2685

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

895 / 895

Position of stopcodon in wt / mu cDNA

2943 / 2943

Position of start ATG in wt / mu cDNA

259 / 259

Last intron/exon boundary

2945

Theoretical NMD boundary in CDS

2636

Length of CDS

2685

Coding sequence (CDS) position

43

cDNA position

301

gDNA position

426

Chromosomal position

123184578

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:

23:123184578G>A_4_ENST00000611689

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:123184578G>A (GRCh38)

Gene symbol

GRIA3

Gene constraints

no data

Ensembl transcript ID

ENST00000611689.4

Genbank transcript ID

NM_001256743 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.43G>A
g.426G>A

AA changes

AAE:	V15I	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs140014006
gnomAD	homo-/hemizygous (A/A)	heterozygous	allele carriers
	8	20	28

Protein conservation

Species	Match	AA	Alignment
Human		15	Q	K	K	M	G	Q	S	V	L	R	A	V	F	F	L	V	L	G	L	L	G	H	S	H
mutated	all conserved	15	Q	K	K	M	G	Q	S	V	L	R	A	I	F	F	L	V	L	G	L	L	G	H	S
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

?

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

23

Strand

1

Original gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered gDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Original cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGG

Altered cDNA sequence snippet

GGCAAAGCGTGCTCCGGGCGATCTTCTTTTTAGTCCTGGGG

Wildtype AA sequence

MARQKKMGQS VLRAVFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAC PAERDYLPWP GSIRENNWTA LPCCKDHGLL
HLKCSPGGAR QNWAYCIWGV TGEL*

Mutated AA sequence

MARQKKMGQS VLRAIFFLVL GLLGHSHGGF PNTISIGGLF MRNTVQEHSA FRFAVQLYNT
NQNTTEKPFH LNYHVDHLDS SNSFSVTNAC PAERDYLPWP GSIRENNWTA LPCCKDHGLL
HLKCSPGGAR QNWAYCIWGV TGEL*

Position of stopcodon in wt / mu CDS

435 / 435

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

145 / 145

Position of stopcodon in wt / mu cDNA

672 / 672

Position of start ATG in wt / mu cDNA

238 / 238

Last intron/exon boundary

652

Theoretical NMD boundary in CDS

364

Length of CDS

435

Coding sequence (CDS) position

43

cDNA position

280

gDNA position

426

Chromosomal position

123184578

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