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: ENST00000374391
Querying Taster for transcript #2: ENST00000542434
MT speed 0.21 s - this script 2.638025 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
ENST00000374391(MANE Select)	ALOX5	Deleterious	59\|41	simple_aae		Yes				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000542434	ALOX5	Deleterious	93\|7	simple_aae		Yes				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes

MutationT@ster 2025

Variant:

10:45382679G>A_1_ENST00000374391

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

Model: simple_aae
Tree vote: 59|41 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:45382679G>A (GRCh38)

Gene symbol

ALOX5

Gene constraints

LOEUF: 0.93, LOF (oe): 0.76, misssense (oe): 0.92, synonymous (oe): 1.09 ? (gnomAD)

Ensembl transcript ID

ENST00000374391.7

Genbank transcript ID

NM_000698 (exact from MANE), NM_001320862 (by similarity), NM_001320861 (by similarity), NM_001256153 (by similarity)

UniProt / AlphaMissense peptide

LOX5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.347G>A
g.8504G>A

AA changes

AAE:	R116H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs756492997
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	11	11

Protein conservation

Species	Match	AA	Alignment
Human		116	T	G	D	V	E	V	V	L	R	D	G	R	A	K	L	A	R	D	D	Q	I	H	I	L
mutated	not conserved	116	T	G	D	V	E	V	V	L	R	D	G	H	A	K	L	A
Ptroglodytes	all identical	227	T	G	D	V	E	V	V	L	R	D	G	R	A	K	L	A
Mmulatta	all identical	116	T	G	D	G	E	V	V	L	R	D	G	R	A	K	L	A
Fcatus	all identical	116	T	G	E	G	E	I	V	L	R	D	G	R	A	K	L	A
Mmusculus	all identical	116	T	G	E	G	E	I	V	L	R	D	G	R	A	K	L	A
Ggallus	all identical	193	T	D	E	K	E	V	V	L	R	D	G	R	A	K	L	P
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	116	T	N	D	K	E	I	V	L	R	E	G	T	A	K	L	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	674	CHAIN		lost
2	118	DOMAIN	PLAT	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.45	0.054
	2.538	0.963
(flanking)	0.69	0.962

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	8506	wt: 8.02 / mu: 9.44	-	wt: GATGGACGCG\|gtgagcagct mu: GATGGACACG\|gtgagcagct

Distance from splice site

3

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

10

Strand

1

Original gDNA sequence snippet

GGTTGTCCTGAGGGATGGACGCGGTGAGCAGCTCAGGCCCC

Altered gDNA sequence snippet

GGTTGTCCTGAGGGATGGACACGGTGAGCAGCTCAGGCCCC

Original cDNA sequence snippet

GGTTGTCCTGAGGGATGGACGCGCAAAGTTGGCCCGAGATG

Altered cDNA sequence snippet

GGTTGTCCTGAGGGATGGACACGCAAAGTTGGCCCGAGATG

Wildtype AA sequence

MPSYTVTVAT GSQWFAGTDD YIYLSLVGSA GCSEKHLLDK PFYNDFERGA VDSYDVTVDE
ELGEIQLVRI EKRKYWLNDD WYLKYITLKT PHGDYIEFPC YRWITGDVEV VLRDGRAKLA
RDDQIHILKQ HRRKELETRQ KQYRWMEWNP GFPLSIDAKC HKDLPRDIQF DSEKGVDFVL
NYSKAMENLF INRFMHMFQS SWNDFADFEK IFVKISNTIS ERVMNHWQED LMFGYQFLNG
CNPVLIRRCT ELPEKLPVTT EMVECSLERQ LSLEQEVQQG NIFIVDFELL DGIDANKTDP
CTLQFLAAPI CLLYKNLANK IVPIAIQLNQ IPGDENPIFL PSDAKYDWLL AKIWVRSSDF
HVHQTITHLL RTHLVSEVFG IAMYRQLPAV HPIFKLLVAH VRFTIAINTK AREQLICECG
LFDKANATGG GGHVQMVQRA MKDLTYASLC FPEAIKARGM ESKEDIPYYF YRDDGLLVWE
AIRTFTAEVV DIYYEGDQVV EEDPELQDFV NDVYVYGMRG RKSSGFPKSV KSREQLSEYL
TVVIFTASAQ HAAVNFGQYD WCSWIPNAPP TMRAPPPTAK GVVTIEQIVD TLPDRGRSCW
HLGAVWALSQ FQENELFLGM YPEEHFIEKP VKEAMARFRK NLEAIVSVIA ERNKKKQLPY
YYLSPDRIPN SVAI*

Mutated AA sequence

MPSYTVTVAT GSQWFAGTDD YIYLSLVGSA GCSEKHLLDK PFYNDFERGA VDSYDVTVDE
ELGEIQLVRI EKRKYWLNDD WYLKYITLKT PHGDYIEFPC YRWITGDVEV VLRDGHAKLA
RDDQIHILKQ HRRKELETRQ KQYRWMEWNP GFPLSIDAKC HKDLPRDIQF DSEKGVDFVL
NYSKAMENLF INRFMHMFQS SWNDFADFEK IFVKISNTIS ERVMNHWQED LMFGYQFLNG
CNPVLIRRCT ELPEKLPVTT EMVECSLERQ LSLEQEVQQG NIFIVDFELL DGIDANKTDP
CTLQFLAAPI CLLYKNLANK IVPIAIQLNQ IPGDENPIFL PSDAKYDWLL AKIWVRSSDF
HVHQTITHLL RTHLVSEVFG IAMYRQLPAV HPIFKLLVAH VRFTIAINTK AREQLICECG
LFDKANATGG GGHVQMVQRA MKDLTYASLC FPEAIKARGM ESKEDIPYYF YRDDGLLVWE
AIRTFTAEVV DIYYEGDQVV EEDPELQDFV NDVYVYGMRG RKSSGFPKSV KSREQLSEYL
TVVIFTASAQ HAAVNFGQYD WCSWIPNAPP TMRAPPPTAK GVVTIEQIVD TLPDRGRSCW
HLGAVWALSQ FQENELFLGM YPEEHFIEKP VKEAMARFRK NLEAIVSVIA ERNKKKQLPY
YYLSPDRIPN SVAI*

Position of stopcodon in wt / mu CDS

2025 / 2025

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

675 / 675

Position of stopcodon in wt / mu cDNA

2089 / 2089

Position of start ATG in wt / mu cDNA

65 / 65

Last intron/exon boundary

1909

Theoretical NMD boundary in CDS

1794

Length of CDS

2025

Coding sequence (CDS) position

347

cDNA position

411

gDNA position

8504

Chromosomal position

45382679

Speed

0.08 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:

10:45382679G>A_2_ENST00000542434

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

Model: simple_aae
Tree vote: 93|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:45382679G>A (GRCh38)

Gene symbol

ALOX5

Gene constraints

LOEUF: 0.86, LOF (oe): 0.68, misssense (oe): 0.90, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000542434.5

Genbank transcript ID

NM_001256154 (by similarity)

UniProt / AlphaMissense peptide

LOX5_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.347G>A
g.8504G>A

AA changes

AAE:	R116H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs756492997
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	11	11

Protein conservation

Species	Match	AA	Alignment
Human		116	T	G	D	V	E	V	V	L	R	D	G	R	A	K	L	A	R	D	D	Q	I	H	I	L
mutated	not conserved	116	T	G	D	V	E	V	V	L	R	D	G	H	A	K	L	A
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	674	CHAIN		lost
2	118	DOMAIN	PLAT	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.45	0.054
	2.538	0.963
(flanking)	0.69	0.962

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	8506	wt: 8.02 / mu: 9.44	-	wt: GATGGACGCG\|gtgagcagct mu: GATGGACACG\|gtgagcagct

Distance from splice site

3

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

10

Strand

1

Original gDNA sequence snippet

GGTTGTCCTGAGGGATGGACGCGGTGAGCAGCTCAGGCCCC

Altered gDNA sequence snippet

GGTTGTCCTGAGGGATGGACACGGTGAGCAGCTCAGGCCCC

Original cDNA sequence snippet

GGTTGTCCTGAGGGATGGACGCGCAAAGTTGGCCCGAGATG

Altered cDNA sequence snippet

GGTTGTCCTGAGGGATGGACACGCAAAGTTGGCCCGAGATG

Wildtype AA sequence

MPSYTVTVAT GSQWFAGTDD YIYLSLVGSA GCSEKHLLDK PFYNDFERGA VDSYDVTVDE
ELGEIQLVRI EKRKYWLNDD WYLKYITLKT PHGDYIEFPC YRWITGDVEV VLRDGRAKLA
RDDQIHILKQ HRRKELETRQ KQYRWMEWNP GFPLSIDAKC HKDLPRDIQF DSEKGVDFVL
NYSKAMENLF INRFMHMFQS SWNDFADFEK IFVKISNTIS ERVMNHWQED LMFGYQFLNG
CNPVLIRRCT ELPEKLPVTT EMVECSLERQ LSLEQEVQQG NIFIVDFELL DGIDANKTDP
CTLQFLAAPI CLLYKNLANK IVPIAIQLNQ IPGDENPIFL PSDAKYDWLL AKIWVRSSDF
HVHQTITHLL RTHLVSEVFG IAMYRQLPAV HPIFKLLVAH VRFTIAINTK AREQLICECG
LFDKANATGG GGHVQMVQRA MKDLTYASLC FPEAIKARGM ESKEDIPYYF YRDDGLLVWE
AIRTFTAEVV DIYYEGDQVV EEDPELQDFV NDVYVYGMRG RKSSGFPKSV KSREQLSEYL
TVVIFTASAQ HAAVNFGQLF LGMYPEEHFI EKPVKEAMAR FRKNLEAIVS VIAERNKKKQ
LPYYYLSPDR IPNSVAI*

Mutated AA sequence

MPSYTVTVAT GSQWFAGTDD YIYLSLVGSA GCSEKHLLDK PFYNDFERGA VDSYDVTVDE
ELGEIQLVRI EKRKYWLNDD WYLKYITLKT PHGDYIEFPC YRWITGDVEV VLRDGHAKLA
RDDQIHILKQ HRRKELETRQ KQYRWMEWNP GFPLSIDAKC HKDLPRDIQF DSEKGVDFVL
NYSKAMENLF INRFMHMFQS SWNDFADFEK IFVKISNTIS ERVMNHWQED LMFGYQFLNG
CNPVLIRRCT ELPEKLPVTT EMVECSLERQ LSLEQEVQQG NIFIVDFELL DGIDANKTDP
CTLQFLAAPI CLLYKNLANK IVPIAIQLNQ IPGDENPIFL PSDAKYDWLL AKIWVRSSDF
HVHQTITHLL RTHLVSEVFG IAMYRQLPAV HPIFKLLVAH VRFTIAINTK AREQLICECG
LFDKANATGG GGHVQMVQRA MKDLTYASLC FPEAIKARGM ESKEDIPYYF YRDDGLLVWE
AIRTFTAEVV DIYYEGDQVV EEDPELQDFV NDVYVYGMRG RKSSGFPKSV KSREQLSEYL
TVVIFTASAQ HAAVNFGQLF LGMYPEEHFI EKPVKEAMAR FRKNLEAIVS VIAERNKKKQ
LPYYYLSPDR IPNSVAI*

Position of stopcodon in wt / mu CDS

1854 / 1854

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

618 / 618

Position of stopcodon in wt / mu cDNA

1958 / 1958

Position of start ATG in wt / mu cDNA

105 / 105

Last intron/exon boundary

1778

Theoretical NMD boundary in CDS

1623

Length of CDS

1854

Coding sequence (CDS) position

347

cDNA position

451

gDNA position

8504

Chromosomal position

45382679

Speed

0.13 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