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: ENST00000378190
Querying Taster for transcript #2: ENST00000378191
MT speed 0.69 s - this script 3.120159 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
ENST00000378191(MANE Select)	AJAP1	Deleterious	54\|46	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000378190	AJAP1	Deleterious	62\|38	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:4712438G>A_2_ENST00000378191

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 54|46 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:4712438G>A (GRCh38)

Gene symbol

AJAP1

Gene constraints

LOEUF: 0.38, LOF (oe): 0.18, misssense (oe): 1.11, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000378191.5

Genbank transcript ID

NM_018836 (exact from MANE)

UniProt / AlphaMissense peptide

AJAP1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.568G>A
g.57830G>A

AA changes

AAE:	E190K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs764876909
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		190	E	F	I	A	W	G	P	T	G	D	E	E	A	L	E	S	N	T	F	P	G	V	Y	G
mutated	all conserved	190			I	A	W	G	P	T	G	D	E	K	A	L	E	S	N	T	F	P	G	V	Y
Ptroglodytes	all identical	190			I	A	W	G	P	T	G	D	E	E	A	L	E	S	N	T	F	P	G	V	Y
Mmulatta	all identical	190			I	A	W	G	P	T	G	D	E	E	A	L	E	S	N	T	F	P	G	V	Y
Fcatus	all identical	192	E	F	I	A	W	G	P	T	G	E	E	E	A	P	E	S	N	T	F	P	G	L	Y
Mmusculus	all conserved	190	E	F	I	A	W	G	P	T	G	D	E	D	A	L	E	S	N	T	F	P	G	G	F
Ggallus	all conserved	166	E	V	I	V	W	G	P	T	G	E	E	D	S	L	E	S	S	T	L	P	S	I	F
Trubripes	not conserved	193	G	F	I	D	W	G	P	T	G	T	D	-	S	I	D	D	D	S	K	P	-	-	-
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	197	E	F	I	L	W	G	P	T	G	D	D	D	-	V	E	S	S	T	F	P	G	I	Y

Protein features

Start (aa)	End (aa)	Feature	Details
44	282	TOPO_DOM	Extracellular	lost
44	411	CHAIN		lost
115	197	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.075	1
	2.422	1
(flanking)	2.839	0.993

?

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

GGGGGCCCACGGGGGACGAGGAGGCCCTGGAGTCCAACACA

Altered gDNA sequence snippet

GGGGGCCCACGGGGGACGAGAAGGCCCTGGAGTCCAACACA

Original cDNA sequence snippet

GGGGGCCCACGGGGGACGAGGAGGCCCTGGAGTCCAACACA

Altered cDNA sequence snippet

GGGGGCCCACGGGGGACGAGAAGGCCCTGGAGTCCAACACA

Wildtype AA sequence

MWIQQLLGLS SMSIRWPGRP LGSHAWILIA MFQLAVDLPA CEALGPGPEF WLLPRSPPRP
PRLWSFRSGQ PARVPAPVWS PRPPRVERIH GQMQMPRARR AHRPRDQAAA LVPKAGLAKP
PAAAKSSPSL ASSSSSSSSA VAGGAPEQQA LLRRGKRHLQ GDGLSSFDSR GSRPTTETEF
IAWGPTGDEE ALESNTFPGV YGPTTVSILQ TRKTTVAATT TTTTTATPMT LQTKGFTESL
DPRRRIPGGV STTEPSTSPS NNGEVTQPPR ILGEASGLAV HQIITITVSL IMVIAALITT
LVLKNCCAQS GNTRRNSHQR KTNQQEESCQ NLTDFPSARV PSSLDIFTAY NETLQCSHEC
VRASVPVYTD ETLHSTTGEY KSTFNGNRPS SSDRHLIPVA FVSEKWFEIS C*

Mutated AA sequence

MWIQQLLGLS SMSIRWPGRP LGSHAWILIA MFQLAVDLPA CEALGPGPEF WLLPRSPPRP
PRLWSFRSGQ PARVPAPVWS PRPPRVERIH GQMQMPRARR AHRPRDQAAA LVPKAGLAKP
PAAAKSSPSL ASSSSSSSSA VAGGAPEQQA LLRRGKRHLQ GDGLSSFDSR GSRPTTETEF
IAWGPTGDEK ALESNTFPGV YGPTTVSILQ TRKTTVAATT TTTTTATPMT LQTKGFTESL
DPRRRIPGGV STTEPSTSPS NNGEVTQPPR ILGEASGLAV HQIITITVSL IMVIAALITT
LVLKNCCAQS GNTRRNSHQR KTNQQEESCQ NLTDFPSARV PSSLDIFTAY NETLQCSHEC
VRASVPVYTD ETLHSTTGEY KSTFNGNRPS SSDRHLIPVA FVSEKWFEIS C*

Position of stopcodon in wt / mu CDS

1236 / 1236

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

412 / 412

Position of stopcodon in wt / mu cDNA

2053 / 2053

Position of start ATG in wt / mu cDNA

818 / 818

Last intron/exon boundary

2112

Theoretical NMD boundary in CDS

1244

Length of CDS

1236

Coding sequence (CDS) position

568

cDNA position

1385

gDNA position

57830

Chromosomal position

4712438

Speed

0.35 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:

1:4712438G>A_1_ENST00000378190

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 62|38 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:4712438G>A (GRCh38)

Gene symbol

AJAP1

Gene constraints

LOEUF: 0.38, LOF (oe): 0.18, misssense (oe): 1.11, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000378190.7

Genbank transcript ID

NM_001042478 (by similarity)

UniProt / AlphaMissense peptide

AJAP1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.568G>A
g.57830G>A

AA changes

AAE:	E190K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs764876909
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		190	E	F	I	A	W	G	P	T	G	D	E	E	A	L	E	S	N	T	F	P	G	V	Y	G
mutated	all conserved	190			I	A	W	G	P	T	G	D	E	K	A	L	E	S	N	T	F	P	G	V	Y
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
44	282	TOPO_DOM	Extracellular	lost
44	411	CHAIN		lost
115	197	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.075	1
	2.422	1
(flanking)	2.839	0.993

?

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

GGGGGCCCACGGGGGACGAGGAGGCCCTGGAGTCCAACACA

Altered gDNA sequence snippet

GGGGGCCCACGGGGGACGAGAAGGCCCTGGAGTCCAACACA

Original cDNA sequence snippet

GGGGGCCCACGGGGGACGAGGAGGCCCTGGAGTCCAACACA

Altered cDNA sequence snippet

GGGGGCCCACGGGGGACGAGAAGGCCCTGGAGTCCAACACA

Wildtype AA sequence

MWIQQLLGLS SMSIRWPGRP LGSHAWILIA MFQLAVDLPA CEALGPGPEF WLLPRSPPRP
PRLWSFRSGQ PARVPAPVWS PRPPRVERIH GQMQMPRARR AHRPRDQAAA LVPKAGLAKP
PAAAKSSPSL ASSSSSSSSA VAGGAPEQQA LLRRGKRHLQ GDGLSSFDSR GSRPTTETEF
IAWGPTGDEE ALESNTFPGV YGPTTVSILQ TRKTTVAATT TTTTTATPMT LQTKGFTESL
DPRRRIPGGV STTEPSTSPS NNGEVTQPPR ILGEASGLAV HQIITITVSL IMVIAALITT
LVLKNCCAQS GNTRRNSHQR KTNQQEESCQ NLTDFPSARV PSSLDIFTAY NETLQCSHEC
VRASVPVYTD ETLHSTTGEY KSTFNGNRPS SSDRHLIPVA FVSEKWFEIS C*

Mutated AA sequence

MWIQQLLGLS SMSIRWPGRP LGSHAWILIA MFQLAVDLPA CEALGPGPEF WLLPRSPPRP
PRLWSFRSGQ PARVPAPVWS PRPPRVERIH GQMQMPRARR AHRPRDQAAA LVPKAGLAKP
PAAAKSSPSL ASSSSSSSSA VAGGAPEQQA LLRRGKRHLQ GDGLSSFDSR GSRPTTETEF
IAWGPTGDEK ALESNTFPGV YGPTTVSILQ TRKTTVAATT TTTTTATPMT LQTKGFTESL
DPRRRIPGGV STTEPSTSPS NNGEVTQPPR ILGEASGLAV HQIITITVSL IMVIAALITT
LVLKNCCAQS GNTRRNSHQR KTNQQEESCQ NLTDFPSARV PSSLDIFTAY NETLQCSHEC
VRASVPVYTD ETLHSTTGEY KSTFNGNRPS SSDRHLIPVA FVSEKWFEIS C*

Position of stopcodon in wt / mu CDS

1236 / 1236

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

412 / 412

Position of stopcodon in wt / mu cDNA

1930 / 1930

Position of start ATG in wt / mu cDNA

695 / 695

Last intron/exon boundary

1989

Theoretical NMD boundary in CDS

1244

Length of CDS

1236

Coding sequence (CDS) position

568

cDNA position

1262

gDNA position

57830

Chromosomal position

4712438

Speed

0.34 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