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: ENST00000361922
Querying Taster for transcript #2: ENST00000537831
Querying Taster for transcript #3: ENST00000392213
MT speed 1.03 s - this script 3.701083 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
ENST00000361922	MAG	Deleterious	57\|43	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000537831	MAG	Benign	0\|100	5utr	No	Single base exchange	N/A
ENST00000392213(MANE Select)	MAG	Benign	47\|53	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

19:35295618C>G_1_ENST00000361922

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 57|43 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35295618C>G (GRCh38)

Gene symbol

MAG

Gene constraints

LOEUF: 0.72, LOF (oe): 0.53, misssense (oe): 0.94, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000361922.8

Genbank transcript ID

NM_080600 (by similarity)

UniProt / AlphaMissense peptide

MAG_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.52C>G
g.3494C>G

AA changes

AAE:	R18G	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		18	L	P	L	F	W	I	M	I	S	A	S	R	G	G	H	W	G	A	W	M	P	S	S	I
mutated	not conserved	18	L	P	L	F	W	I	M	I	S	A	S	G	G	G	H	W	G	A	W	M	P	S	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	19	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.119	0
	0.362	0
(flanking)	0.682	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

CCTGCTTGCCCGCAGCCTCCCGAGGGGGTCACTGGGGTGCC

Altered gDNA sequence snippet

CCTGCTTGCCCGCAGCCTCCGGAGGGGGTCACTGGGGTGCC

Original cDNA sequence snippet

GGATTATGATTTCAGCCTCCCGAGGGGGTCACTGGGGTGCC

Altered cDNA sequence snippet

GGATTATGATTTCAGCCTCCGGAGGGGGTCACTGGGGTGCC

Wildtype AA sequence

MIFLTALPLF WIMISASRGG HWGAWMPSSI SAFEGTCVSI PCRFDFPDEL RPAVVHGVWY
FNSPYPKNYP PVVFKSRTQV VHESFQGRSR LLGDLGLRNC TLLLSNVSPE LGGKYYFRGD
LGGYNQYTFS EHSVLDIVNT PNIVVPPEVV AGTEVEVSCM VPDNCPELRP ELSWLGHEGL
GEPAVLGRLR EDEGTWVQVS LLHFVPTREA NGHRLGCQAS FPNTTLQFEG YASMDVKYPP
VIVEMNSSVE AIEGSHVSLL CGADSNPPPL LTWMRDGTVL REAVAESLLL ELEEVTPAED
GVYACLAENA YGQDNRTVGL SVMYAPWKPT VNGTMVAVEG ETVSILCSTQ SNPDPILTIF
KEKQILSTVI YESELQLELP AVSPEDDGEY WCVAENQYGQ RATAFNLSVE FAPVLLLESH
CAAARDTVQC LCVVKSNPEP SVAFELPSRN VTVNESEREF VYSERSGLVL TSILTLRGQA
QAPPRVICTA RNLYGAKSLE LPFQGAHRLM WAKIGPVGAV VAFAILIAIV CYITQTRRKK
NVTESPSFSA GDNPPVLFSS DFRISGAPEK YESKEVSTLE SH*

Mutated AA sequence

MIFLTALPLF WIMISASGGG HWGAWMPSSI SAFEGTCVSI PCRFDFPDEL RPAVVHGVWY
FNSPYPKNYP PVVFKSRTQV VHESFQGRSR LLGDLGLRNC TLLLSNVSPE LGGKYYFRGD
LGGYNQYTFS EHSVLDIVNT PNIVVPPEVV AGTEVEVSCM VPDNCPELRP ELSWLGHEGL
GEPAVLGRLR EDEGTWVQVS LLHFVPTREA NGHRLGCQAS FPNTTLQFEG YASMDVKYPP
VIVEMNSSVE AIEGSHVSLL CGADSNPPPL LTWMRDGTVL REAVAESLLL ELEEVTPAED
GVYACLAENA YGQDNRTVGL SVMYAPWKPT VNGTMVAVEG ETVSILCSTQ SNPDPILTIF
KEKQILSTVI YESELQLELP AVSPEDDGEY WCVAENQYGQ RATAFNLSVE FAPVLLLESH
CAAARDTVQC LCVVKSNPEP SVAFELPSRN VTVNESEREF VYSERSGLVL TSILTLRGQA
QAPPRVICTA RNLYGAKSLE LPFQGAHRLM WAKIGPVGAV VAFAILIAIV CYITQTRRKK
NVTESPSFSA GDNPPVLFSS DFRISGAPEK YESKEVSTLE SH*

Position of stopcodon in wt / mu CDS

1749 / 1749

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

583 / 583

Position of stopcodon in wt / mu cDNA

1899 / 1899

Position of start ATG in wt / mu cDNA

151 / 151

Last intron/exon boundary

1911

Theoretical NMD boundary in CDS

1710

Length of CDS

1749

Coding sequence (CDS) position

52

cDNA position

202

gDNA position

3494

Chromosomal position

35295618

Speed

0.45 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:

19:35295618C>G_2_ENST00000537831

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Prediction:

BenignPermalink

Summary:

Model: 5utr
Tree vote: 0|100 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35295618C>G (GRCh38)

Gene symbol

MAG

Gene constraints

LOEUF: 0.71, LOF (oe): 0.51, misssense (oe): 0.95, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000537831.2

Genbank transcript ID

NM_001199216 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.162C>G
g.3494C>G

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.119	0
	0.362	0
(flanking)	0.682	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

19

Strand

1

Original gDNA sequence snippet

CCTGCTTGCCCGCAGCCTCCCGAGGGGGTCACTGGGGTGCC

Altered gDNA sequence snippet

CCTGCTTGCCCGCAGCCTCCGGAGGGGGTCACTGGGGTGCC

Original cDNA sequence snippet

CTGAGCAGGTTGGAGCCTCCCGAGGGGGTCACTGGGGTGCC

Altered cDNA sequence snippet

CTGAGCAGGTTGGAGCCTCCGGAGGGGGTCACTGGGGTGCC

Wildtype AA sequence

MPSSISAFEG TCVSIPCRFD FPDELRPAVV HGVWYFNSPY PKNYPPVVFK SRTQVVHESF
QGRSRLLGDL GLRNCTLLLS NVSPELGGKY YFRGDLGGYN QYTFSEHSVL DIVNTPNIVV
PPEVVAGTEV EVSCMVPDNC PELRPELSWL GHEGLGEPAV LGRLREDEGT WVQVSLLHFV
PTREANGHRL GCQASFPNTT LQFEGYASMD VKYPPVIVEM NSSVEAIEGS HVSLLCGADS
NPPPLLTWMR DGTVLREAVA ESLLLELEEV TPAEDGVYAC LAENAYGQDN RTVGLSVMYA
PWKPTVNGTM VAVEGETVSI LCSTQSNPDP ILTIFKEKQI LSTVIYESEL QLELPAVSPE
DDGEYWCVAE NQYGQRATAF NLSVEFAPVL LLESHCAAAR DTVQCLCVVK SNPEPSVAFE
LPSRNVTVNE SEREFVYSER SGLVLTSILT LRGQAQAPPR VICTARNLYG AKSLELPFQG
AHRLMWAKIG PVGAVVAFAI LIAIVCYITQ TRRKKNVTES PSFSAGDNPP VLFSSDFRIS
GAPEKYESER RLGSERRLLG LRGEPPELDL SYSHSDLGKR PTKDSYTLTE ELAEYAEIRV
K*

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

186 / 186

Last intron/exon boundary

1826

Theoretical NMD boundary in CDS

1590

Length of CDS

1806

Coding sequence (CDS) position

N/A

cDNA position

162

gDNA position

3494

Chromosomal position

35295618

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:

19:35295618C>G_3_ENST00000392213

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 47|53 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35295618C>G (GRCh38)

Gene symbol

MAG

Gene constraints

LOEUF: 0.73, LOF (oe): 0.54, misssense (oe): 0.94, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000392213.8

Genbank transcript ID

NM_002361 (exact from MANE)

UniProt / AlphaMissense peptide

MAG_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.52C>G
g.3494C>G

AA changes

AAE:	R18G	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		18	L	P	L	F	W	I	M	I	S	A	S	R	G	G	H	W	G	A	W	M	P	S	S	I
mutated	not conserved	18	L	P	L	F	W	I	M	I	S	A	S	G	G	G	H	W	G	A	W	M	P	S	S
Ptroglodytes	all identical	18	L	P	L	F	W	I	M	I	S	A	S	R	G	G	H	W	G	A	W	M	P	S	S
Mmulatta	no homologue
Fcatus	all identical	18	L	P	L	F	W	I	M	I	S	A	S	R	G	G	H	W	G	A	W	M	P	S	S
Mmusculus	all identical	18	L	P	L	F	W	I	M	I	S	A	S	R	G	G	H	W	G	A	W	M	P	S	T
Ggallus	no homologue
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	35	L	L	L	L	W	I	F	T	D	G	A	L	S	R	Q	W	A	A	W	M	P	Q	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	19	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.119	0
	0.362	0
(flanking)	0.682	0.001

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

CCTGCTTGCCCGCAGCCTCCCGAGGGGGTCACTGGGGTGCC

Altered gDNA sequence snippet

CCTGCTTGCCCGCAGCCTCCGGAGGGGGTCACTGGGGTGCC

Original cDNA sequence snippet

GGATTATGATTTCAGCCTCCCGAGGGGGTCACTGGGGTGCC

Altered cDNA sequence snippet

GGATTATGATTTCAGCCTCCGGAGGGGGTCACTGGGGTGCC

Wildtype AA sequence

MIFLTALPLF WIMISASRGG HWGAWMPSSI SAFEGTCVSI PCRFDFPDEL RPAVVHGVWY
FNSPYPKNYP PVVFKSRTQV VHESFQGRSR LLGDLGLRNC TLLLSNVSPE LGGKYYFRGD
LGGYNQYTFS EHSVLDIVNT PNIVVPPEVV AGTEVEVSCM VPDNCPELRP ELSWLGHEGL
GEPAVLGRLR EDEGTWVQVS LLHFVPTREA NGHRLGCQAS FPNTTLQFEG YASMDVKYPP
VIVEMNSSVE AIEGSHVSLL CGADSNPPPL LTWMRDGTVL REAVAESLLL ELEEVTPAED
GVYACLAENA YGQDNRTVGL SVMYAPWKPT VNGTMVAVEG ETVSILCSTQ SNPDPILTIF
KEKQILSTVI YESELQLELP AVSPEDDGEY WCVAENQYGQ RATAFNLSVE FAPVLLLESH
CAAARDTVQC LCVVKSNPEP SVAFELPSRN VTVNESEREF VYSERSGLVL TSILTLRGQA
QAPPRVICTA RNLYGAKSLE LPFQGAHRLM WAKIGPVGAV VAFAILIAIV CYITQTRRKK
NVTESPSFSA GDNPPVLFSS DFRISGAPEK YESERRLGSE RRLLGLRGEP PELDLSYSHS
DLGKRPTKDS YTLTEELAEY AEIRVK*

Mutated AA sequence

MIFLTALPLF WIMISASGGG HWGAWMPSSI SAFEGTCVSI PCRFDFPDEL RPAVVHGVWY
FNSPYPKNYP PVVFKSRTQV VHESFQGRSR LLGDLGLRNC TLLLSNVSPE LGGKYYFRGD
LGGYNQYTFS EHSVLDIVNT PNIVVPPEVV AGTEVEVSCM VPDNCPELRP ELSWLGHEGL
GEPAVLGRLR EDEGTWVQVS LLHFVPTREA NGHRLGCQAS FPNTTLQFEG YASMDVKYPP
VIVEMNSSVE AIEGSHVSLL CGADSNPPPL LTWMRDGTVL REAVAESLLL ELEEVTPAED
GVYACLAENA YGQDNRTVGL SVMYAPWKPT VNGTMVAVEG ETVSILCSTQ SNPDPILTIF
KEKQILSTVI YESELQLELP AVSPEDDGEY WCVAENQYGQ RATAFNLSVE FAPVLLLESH
CAAARDTVQC LCVVKSNPEP SVAFELPSRN VTVNESEREF VYSERSGLVL TSILTLRGQA
QAPPRVICTA RNLYGAKSLE LPFQGAHRLM WAKIGPVGAV VAFAILIAIV CYITQTRRKK
NVTESPSFSA GDNPPVLFSS DFRISGAPEK YESERRLGSE RRLLGLRGEP PELDLSYSHS
DLGKRPTKDS YTLTEELAEY AEIRVK*

Position of stopcodon in wt / mu CDS

1881 / 1881

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

627 / 627

Position of stopcodon in wt / mu cDNA

2004 / 2004

Position of start ATG in wt / mu cDNA

124 / 124

Last intron/exon boundary

1839

Theoretical NMD boundary in CDS

1665

Length of CDS

1881

Coding sequence (CDS) position

52

cDNA position

175

gDNA position

3494

Chromosomal position

35295618

Speed

0.55 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