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: ENST00000372517
Querying Taster for transcript #2: ENST00000372514
MT speed 0.58 s - this script 3.011199 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000372514	ERMAP	Deleterious	56\|44	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000372517(MANE Select)	ERMAP	Benign	34\|66	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:42843097T>A_2_ENST00000372514

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 56|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:42843097T>A (GRCh38)

Gene symbol

ERMAP

Gene constraints

LOEUF: 0.91, LOF (oe): 0.68, misssense (oe): 0.89, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000372514.7

Genbank transcript ID

NM_018538 (by similarity)

UniProt / AlphaMissense peptide

ERMAP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1293T>A
g.25976T>A

AA changes

AAE:	H431Q	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs745596105
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	32	32

Protein conservation

Species	Match	AA	Alignment
Human		431	E	S	I	V	P	R	P	E	G	K	G	H	A	N	G	D	V	S	L	K	V	N	S	S
mutated	not conserved	431		S	I	V	P	R	P	E	G	K	G	Q	A	N	G	D	V	S	L	K	V	N	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
30	475	CHAIN		lost
177	475	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.839	0
	-0.803	0.003
(flanking)	2.718	0.295

?

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

1

Strand

1

Original gDNA sequence snippet

AGGCCAGAAGGGAAAGGCCATGCTAATGGAGATGTGTCCCT

Altered gDNA sequence snippet

AGGCCAGAAGGGAAAGGCCAAGCTAATGGAGATGTGTCCCT

Original cDNA sequence snippet

AGGCCAGAAGGGAAAGGCCATGCTAATGGAGATGTGTCCCT

Altered cDNA sequence snippet

AGGCCAGAAGGGAAAGGCCAAGCTAATGGAGATGTGTCCCT

Wildtype AA sequence

MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC PLSLWPGTVP
KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL VRDAQEGSVT LQILDVRLED
QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS LSPSAVALAV ILPVLVLLIM VCLCLIWKQR
RAKEKLLYEH VTEVDNLLSD HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV
TLDPDTAHPK LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR LKEPPRCVGI
FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH DGGKNTAPLV ICSELHKSEE
SIVPRPEGKG HANGDVSLKV NSSLLPPKAP ELKDIILSLP PDLGPALQEL KAPSF*

Mutated AA sequence

MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC PLSLWPGTVP
KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL VRDAQEGSVT LQILDVRLED
QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS LSPSAVALAV ILPVLVLLIM VCLCLIWKQR
RAKEKLLYEH VTEVDNLLSD HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV
TLDPDTAHPK LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR LKEPPRCVGI
FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH DGGKNTAPLV ICSELHKSEE
SIVPRPEGKG QANGDVSLKV NSSLLPPKAP ELKDIILSLP PDLGPALQEL KAPSF*

Position of stopcodon in wt / mu CDS

1428 / 1428

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

476 / 476

Position of stopcodon in wt / mu cDNA

1612 / 1612

Position of start ATG in wt / mu cDNA

185 / 185

Last intron/exon boundary

896

Theoretical NMD boundary in CDS

661

Length of CDS

1428

Coding sequence (CDS) position

1293

cDNA position

1477

gDNA position

25976

Chromosomal position

42843097

Speed

0.26 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:

1:42843097T>A_1_ENST00000372517

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:42843097T>A (GRCh38)

Gene symbol

ERMAP

Gene constraints

LOEUF: 0.91, LOF (oe): 0.68, misssense (oe): 0.89, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000372517.8

Genbank transcript ID

NM_001017922 (exact from MANE)

UniProt / AlphaMissense peptide

ERMAP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1293T>A
g.25976T>A

AA changes

AAE:	H431Q	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs745596105
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	32	32

Protein conservation

Species	Match	AA	Alignment
Human		431	E	S	I	V	P	R	P	E	G	K	G	H	A	N	G	D	V	S	L	K	V	N	S	S
mutated	not conserved	431		S	I	V	P	R	P	E	G	K	G	Q	A	N	G	D	V	S	L	K	V	N	S
Ptroglodytes	all identical	431		S	I	V	P	K	P	E	G	K	G	H	A	N	G	D	V	S	L	K	V	N	S
Mmulatta	all identical	483		S	I	V	P	K	P	E	G	K	G	H	A	N	G	D	V	S	L	K	V	N	S
Fcatus	not conserved	521	P	S	T	V	P	K	P	E	E	K	G	Q	A	N	G	D	V	A	M	K	V	D	P
Mmusculus	not conserved	548	E	S	I	V	P	K	Q	E	G	K	D	R	A	N	G	D	V	S	L	K	M	N	P
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
30	475	CHAIN		lost
177	475	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.839	0
	-0.803	0.003
(flanking)	2.718	0.295

?

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

1

Strand

1

Original gDNA sequence snippet

AGGCCAGAAGGGAAAGGCCATGCTAATGGAGATGTGTCCCT

Altered gDNA sequence snippet

AGGCCAGAAGGGAAAGGCCAAGCTAATGGAGATGTGTCCCT

Original cDNA sequence snippet

AGGCCAGAAGGGAAAGGCCATGCTAATGGAGATGTGTCCCT

Altered cDNA sequence snippet

AGGCCAGAAGGGAAAGGCCAAGCTAATGGAGATGTGTCCCT

Wildtype AA sequence

MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC PLSLWPGTVP
KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL VRDAQEGSVT LQILDVRLED
QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS LSPSAVALAV ILPVLVLLIM VCLCLIWKQR
RAKEKLLYEH VTEVDNLLSD HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV
TLDPDTAHPK LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR LKEPPRCVGI
FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH DGGKNTAPLV ICSELHKSEE
SIVPRPEGKG HANGDVSLKV NSSLLPPKAP ELKDIILSLP PDLGPALQEL KAPSF*

Mutated AA sequence

MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC PLSLWPGTVP
KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL VRDAQEGSVT LQILDVRLED
QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS LSPSAVALAV ILPVLVLLIM VCLCLIWKQR
RAKEKLLYEH VTEVDNLLSD HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV
TLDPDTAHPK LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR LKEPPRCVGI
FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH DGGKNTAPLV ICSELHKSEE
SIVPRPEGKG QANGDVSLKV NSSLLPPKAP ELKDIILSLP PDLGPALQEL KAPSF*

Position of stopcodon in wt / mu CDS

1428 / 1428

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

476 / 476

Position of stopcodon in wt / mu cDNA

1681 / 1681

Position of start ATG in wt / mu cDNA

254 / 254

Last intron/exon boundary

965

Theoretical NMD boundary in CDS

661

Length of CDS

1428

Coding sequence (CDS) position

1293

cDNA position

1546

gDNA position

25976

Chromosomal position

42843097

Speed

0.32 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