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: ENST00000620345
Querying Taster for transcript #2: ENST00000528354
Querying Taster for transcript #3: ENST00000397250
Querying Taster for transcript #4: ENST00000379971
Querying Taster for transcript #5: ENST00000530685
Querying Taster for transcript #6: ENST00000622442
Querying Taster for transcript #7: ENST00000397251
Querying Taster for transcript #8: ENST00000397248
Querying Taster for transcript #9: ENST00000525219
Querying Taster for transcript #10: ENST00000379977
Querying Taster for transcript #11: ENST00000397255
Querying Taster for transcript #12: ENST00000620865
MT speed 2.71 s - this script 5.162999 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000397248	IL15RA	Deleterious	81\|19	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000525219	IL15RA	Deleterious	82\|18	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000379977(MANE Select)	IL15RA	Deleterious	82\|18	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000620345	IL15RA	Deleterious	83\|17	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000622442	IL15RA	Deleterious	83\|17	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000397255	IL15RA	Deleterious	83\|17	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000620865	IL15RA	Deleterious	83\|17	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000397251	IL15RA	Deleterious	84\|16	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000397250	IL15RA	Benign	13\|187	without_aae	No	Single base exchange	N/A
ENST00000530685	IL15RA	Benign	14\|186	without_aae	No	Single base exchange	N/A
ENST00000379971	IL15RA	Benign	26\|174	without_aae	No	Single base exchange	N/A
ENST00000528354	IL15RA	Benign	30\|170	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

10:5963839C>G_8_ENST00000397248

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 81|19 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.50, LOF (oe): 1.05, misssense (oe): 1.12, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000397248.6

Genbank transcript ID

NM_001256765 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.544G>C
g.14349G>C

AA changes

AAE:	D182H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		182	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	182											R	H	P	A	L	V	H	Q	R	P	A	P	P
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
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MRLAGRQVPE QRSPPPPGLG SARPGSPAVS CGAAAMAPRR ARGCRTLGLP ALLLLLLLRP
PATRDARDRL AVLAGRSRIS ESFNHEVQTH EACVRLRTME NCPQCHHHRT SRQQAGITCP
PPMSVEHADI WVKSYSLYSR ERYICNSGFK RKAGTSSLTE CVLNKATNVA HWTTPSLKCI
RDPALVHQRP APPSTVTTAG VTPQPESLSP SGKEPAASSP SSNNTAATTA AIVPGSQLMP
SKSPSTGTTE ISSHESSHGT PSQTTAKNWE LTASASHQPP GVYPQGHSDT TVAISTSTVL
LCGLSAVSLL ACYLKSRQTP PLASVEMEAM EALPVTWGTS SRDEDLENCS HHL*

Mutated AA sequence

MRLAGRQVPE QRSPPPPGLG SARPGSPAVS CGAAAMAPRR ARGCRTLGLP ALLLLLLLRP
PATRDARDRL AVLAGRSRIS ESFNHEVQTH EACVRLRTME NCPQCHHHRT SRQQAGITCP
PPMSVEHADI WVKSYSLYSR ERYICNSGFK RKAGTSSLTE CVLNKATNVA HWTTPSLKCI
RHPALVHQRP APPSTVTTAG VTPQPESLSP SGKEPAASSP SSNNTAATTA AIVPGSQLMP
SKSPSTGTTE ISSHESSHGT PSQTTAKNWE LTASASHQPP GVYPQGHSDT TVAISTSTVL
LCGLSAVSLL ACYLKSRQTP PLASVEMEAM EALPVTWGTS SRDEDLENCS HHL*

Position of stopcodon in wt / mu CDS

1062 / 1062

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

354 / 354

Position of stopcodon in wt / mu cDNA

1076 / 1076

Position of start ATG in wt / mu cDNA

15 / 15

Last intron/exon boundary

964

Theoretical NMD boundary in CDS

899

Length of CDS

1062

Coding sequence (CDS) position

544

cDNA position

558

gDNA position

14349

Chromosomal position

5963839

Speed

0.12 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:

10:5963839C>G_9_ENST00000525219

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 82|18 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.44, LOF (oe): 0.99, misssense (oe): 0.96, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000525219.6

Genbank transcript ID

NM_001243539 (by similarity)

UniProt / AlphaMissense peptide

I15RA_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.178G>C
g.14349G>C

AA changes

AAE:	D60H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		60	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	60	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
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
31	95	DOMAIN	Sushi	lost
31	205	TOPO_DOM	Extracellular	lost
31	267	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MSVEHADIWV KSYSLYSRER YICNSGFKRK AGTSSLTECV LNKATNVAHW TTPSLKCIRD
PALVHQRPAP PSTVTTAGVT PQPESLSPSG KEPAASSPSS NNTAATTAAI VPGSQLMPSK
SPSTGTTEIS SHESSHGTPS QTTAKNWELT ASASHQPPGV YPQGHSDTTV AISTSTVLLC
GLSAVSLLAC YLKSRQTPPL ASVEMEAMEA LPVTWGTSSR DEDLENCSHH L*

Mutated AA sequence

MSVEHADIWV KSYSLYSRER YICNSGFKRK AGTSSLTECV LNKATNVAHW TTPSLKCIRH
PALVHQRPAP PSTVTTAGVT PQPESLSPSG KEPAASSPSS NNTAATTAAI VPGSQLMPSK
SPSTGTTEIS SHESSHGTPS QTTAKNWELT ASASHQPPGV YPQGHSDTTV AISTSTVLLC
GLSAVSLLAC YLKSRQTPPL ASVEMEAMEA LPVTWGTSSR DEDLENCSHH L*

Position of stopcodon in wt / mu CDS

696 / 696

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

232 / 232

Position of stopcodon in wt / mu cDNA

1127 / 1127

Position of start ATG in wt / mu cDNA

432 / 432

Last intron/exon boundary

1015

Theoretical NMD boundary in CDS

533

Length of CDS

696

Coding sequence (CDS) position

178

cDNA position

609

gDNA position

14349

Chromosomal position

5963839

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

MutationT@ster 2025

Variant:

10:5963839C>G_10_ENST00000379977

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 82|18 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.46, LOF (oe): 1.02, misssense (oe): 1.02, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000379977.8

Genbank transcript ID

NM_002189 (exact from MANE)

UniProt / AlphaMissense peptide

I15RA_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.286G>C
g.14349G>C

AA changes

AAE:	D96H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		96	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	96	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
Ptroglodytes	all identical	182	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	L	Q	R	P	V	P	P
Mmulatta	all identical	102						S	L	K	C	I	R	D	P	L	L	A	R	Q	R	P	A	L	P
Fcatus	all identical	101	H	W	T	I	P	N	L	K	C	I	R	D	P	S	L	T	H	L	K	P	S	-	-
Mmusculus	all identical	99	H	W	T	T	P	S	L	K	C	I	R	D	P	S	L	A	H	Y	S	P	V	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
31	205	TOPO_DOM	Extracellular	lost
31	267	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRG ITCPPPMSVE HADIWVKSYS LYSRERYICN
SGFKRKAGTS SLTECVLNKA TNVAHWTTPS LKCIRDPALV HQRPAPPSTV TTAGVTPQPE
SLSPSGKEPA ASSPSSNNTA ATTAAIVPGS QLMPSKSPST GTTEISSHES SHGTPSQTTA
KNWELTASAS HQPPGVYPQG HSDTTVAIST STVLLCGLSA VSLLACYLKS RQTPPLASVE
MEAMEALPVT WGTSSRDEDL ENCSHHL*

Mutated AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRG ITCPPPMSVE HADIWVKSYS LYSRERYICN
SGFKRKAGTS SLTECVLNKA TNVAHWTTPS LKCIRHPALV HQRPAPPSTV TTAGVTPQPE
SLSPSGKEPA ASSPSSNNTA ATTAAIVPGS QLMPSKSPST GTTEISSHES SHGTPSQTTA
KNWELTASAS HQPPGVYPQG HSDTTVAIST STVLLCGLSA VSLLACYLKS RQTPPLASVE
MEAMEALPVT WGTSSRDEDL ENCSHHL*

Position of stopcodon in wt / mu CDS

804 / 804

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

268 / 268

Position of stopcodon in wt / mu cDNA

855 / 855

Position of start ATG in wt / mu cDNA

52 / 52

Last intron/exon boundary

743

Theoretical NMD boundary in CDS

641

Length of CDS

804

Coding sequence (CDS) position

286

cDNA position

337

gDNA position

14349

Chromosomal position

5963839

Speed

0.38 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:

10:5963839C>G_1_ENST00000620345

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 83|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.44, LOF (oe): 0.99, misssense (oe): 1.04, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000620345.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.439G>C
g.14349G>C

AA changes

AAE:	D147H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		147	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	147	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
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
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRDPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTVAIS TSTVLLCGLS AVSLLACYLK SRWLAKRSLP GDAEAPNMSR
GGRNAWEQLS RAPATSLLRT PVESALSASR P*

Mutated AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRHPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTVAIS TSTVLLCGLS AVSLLACYLK SRWLAKRSLP GDAEAPNMSR
GGRNAWEQLS RAPATSLLRT PVESALSASR P*

Position of stopcodon in wt / mu CDS

996 / 996

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

332 / 332

Position of stopcodon in wt / mu cDNA

1115 / 1115

Position of start ATG in wt / mu cDNA

120 / 120

Last intron/exon boundary

964

Theoretical NMD boundary in CDS

794

Length of CDS

996

Coding sequence (CDS) position

439

cDNA position

558

gDNA position

14349

Chromosomal position

5963839

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:

10:5963839C>G_6_ENST00000622442

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 83|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.44, LOF (oe): 0.99, misssense (oe): 1.04, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000622442.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.439G>C
g.14349G>C

AA changes

AAE:	D147H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		147	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	147	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
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
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRDPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTVAIS TSTVLLCGLS AVSLLACYLK SSSHSRELTL LTLKWPKELL
LLRRDISPAL VEGAGQMPRA SAPRQLQTGQ PRMTSVLPRL CLSFGS*

Mutated AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRHPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTVAIS TSTVLLCGLS AVSLLACYLK SSSHSRELTL LTLKWPKELL
LLRRDISPAL VEGAGQMPRA SAPRQLQTGQ PRMTSVLPRL CLSFGS*

Position of stopcodon in wt / mu CDS

1041 / 1041

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

347 / 347

Position of stopcodon in wt / mu cDNA

1160 / 1160

Position of start ATG in wt / mu cDNA

120 / 120

Last intron/exon boundary

964

Theoretical NMD boundary in CDS

794

Length of CDS

1041

Coding sequence (CDS) position

439

cDNA position

558

gDNA position

14349

Chromosomal position

5963839

Speed

0.37 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:

10:5963839C>G_11_ENST00000397255

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 83|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.44, LOF (oe): 0.99, misssense (oe): 1.04, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000397255.7

Genbank transcript ID

NM_001351096 (by similarity)

UniProt / AlphaMissense peptide

I15RA_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.286G>C
g.14349G>C

AA changes

AAE:	D96H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		96	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	96	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
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
31	205	TOPO_DOM	Extracellular	lost
31	267	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRG ITCPPPMSVE HADIWVKSYS LYSRERYICN
SGFKRKAGTS SLTECVLNKA TNVAHWTTPS LKCIRDPALV HQRPAPPSTV TTAGVTPQPE
SLSPSGKEPA ASSPSSNNTA ATTAAIVPGS QLMPSKSPST GTTEISSHES SHGTPSQTTA
KNWELTASAS HQPPGVYPQG HSDTTVAIST STVLLCGLSA VSLLACYLKS RASVCSCHPR
SAGHTCSVGS VC*

Mutated AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRG ITCPPPMSVE HADIWVKSYS LYSRERYICN
SGFKRKAGTS SLTECVLNKA TNVAHWTTPS LKCIRHPALV HQRPAPPSTV TTAGVTPQPE
SLSPSGKEPA ASSPSSNNTA ATTAAIVPGS QLMPSKSPST GTTEISSHES SHGTPSQTTA
KNWELTASAS HQPPGVYPQG HSDTTVAIST STVLLCGLSA VSLLACYLKS RASVCSCHPR
SAGHTCSVGS VC*

Position of stopcodon in wt / mu CDS

759 / 759

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

253 / 253

Position of stopcodon in wt / mu cDNA

759 / 759

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

692

Theoretical NMD boundary in CDS

641

Length of CDS

759

Coding sequence (CDS) position

286

cDNA position

286

gDNA position

14349

Chromosomal position

5963839

Speed

0.37 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:

10:5963839C>G_12_ENST00000620865

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 83|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.54, LOF (oe): 1.03, misssense (oe): 1.06, synonymous (oe): 1.14 ? (gnomAD)

Ensembl transcript ID

ENST00000620865.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.439G>C
g.14349G>C

AA changes

AAE:	D147H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		147	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	147	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
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
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRDPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTGRKQ HLLPDFQASF QRDCINKHIE DKECWTVASF LLFCTMFVST
CWYTL*

Mutated AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRHPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTGRKQ HLLPDFQASF QRDCINKHIE DKECWTVASF LLFCTMFVST
CWYTL*

Position of stopcodon in wt / mu CDS

918 / 918

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

306 / 306

Position of stopcodon in wt / mu cDNA

1037 / 1037

Position of start ATG in wt / mu cDNA

120 / 120

Last intron/exon boundary

888

Theoretical NMD boundary in CDS

718

Length of CDS

918

Coding sequence (CDS) position

439

cDNA position

558

gDNA position

14349

Chromosomal position

5963839

Speed

0.39 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:

10:5963839C>G_7_ENST00000397251

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.43, LOF (oe): 0.99, misssense (oe): 1.04, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000397251.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.439G>C
g.14349G>C

AA changes

AAE:	D147H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		147	H	W	T	T	P	S	L	K	C	I	R	D	P	A	L	V	H	Q	R	P	A	P	P	S
mutated	not conserved	147	H	W	T	T	P	S	L	K	C	I	R	H	P	A	L	V	H	Q	R	P	A	P	P
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
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	14346	wt: 10.65 / mu: 11.49	-	wt: ctctctctag\|GAGACCCTGC mu: ctctctctag\|GACACCCTGC

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

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

CCAGTCTCAAATGCATTAGAGACCCTGCCCTGGTTCACCAA

Altered cDNA sequence snippet

CCAGTCTCAAATGCATTAGACACCCTGCCCTGGTTCACCAA

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRDPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTVAIS TSTVLLCGLS AVSLLACYLK SSLDAFIKIR GGFSTWLLGL
PHSTVGSG*

Mutated AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRD ARDRLAVLAG RSRISESFNH EVQTHEACVR
LRTMENCPQC HHHRTSRQQA GITCPPPMSV EHADIWVKSY SLYSRERYIC NSGFKRKAGT
SSLTECVLNK ATNVAHWTTP SLKCIRHPAL VHQRPAPPST VTTAGVTPQP ESLSPSGKEP
AASSPSSNNT AATTAAIVPG SQLMPSKSPS TGTTEISSHE SSHGTPSQTT AKNWELTASA
SHQPPGVYPQ GHSDTTVAIS TSTVLLCGLS AVSLLACYLK SSLDAFIKIR GGFSTWLLGL
PHSTVGSG*

Position of stopcodon in wt / mu CDS

927 / 927

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

309 / 309

Position of stopcodon in wt / mu cDNA

1046 / 1046

Position of start ATG in wt / mu cDNA

120 / 120

Last intron/exon boundary

964

Theoretical NMD boundary in CDS

794

Length of CDS

927

Coding sequence (CDS) position

439

cDNA position

558

gDNA position

14349

Chromosomal position

5963839

Speed

0.33 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:

10:5963839C>G_3_ENST00000397250

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 13|187 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.17, LOF (oe): 0.67, misssense (oe): 1.02, synonymous (oe): 1.17 ? (gnomAD)

Ensembl transcript ID

ENST00000397250.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.89-3272G>C
g.14349G>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRE PAASSPSSNN TAATTAAIVP GSQLMPSKSP
STGTTEISSH ESSHGTPSQT TAKNWELTAS ASHQPPGVYP QGHSDTTVAI STSTVLLCGL
SAVSLLACYL KSRQTPPLAS VEMEAMEALP VTWGTSSRDE DLENCSHHL*

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

31 / 31

Last intron/exon boundary

428

Theoretical NMD boundary in CDS

347

Length of CDS

510

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

14349

Chromosomal position

5963839

Speed

0.01 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:

10:5963839C>G_5_ENST00000530685

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 14|186 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.34, LOF (oe): 0.89, misssense (oe): 1.04, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000530685.5

Genbank transcript ID

NM_001351095 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.283+2306G>C
g.14349G>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRG ITCPPPMSVE HADIWVKSYS LYSRERYICN
SGFKRKAGTS SLTECVLNKA TNVAHWTTPS LKCIKPAASS PSSNNTAATT AAIVPGSQLM
PSKSPSTGTT EISSHESSHG TPSQTTAKNW ELTASASHQP PGVYPQGHSD TTVAISTSTV
LLCGLSAVSL LACYLKSRAS VCSCHPRSAG HTCSVGSVC*

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

1 / 1

Last intron/exon boundary

593

Theoretical NMD boundary in CDS

542

Length of CDS

660

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

14349

Chromosomal position

5963839

Speed

0.01 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:

10:5963839C>G_4_ENST00000379971

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 26|174 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.08, LOF (oe): 0.58, misssense (oe): 1.06, synonymous (oe): 1.19 ? (gnomAD)

Ensembl transcript ID

ENST00000379971.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.89-3272G>C
g.14349G>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRE PAASSPSSNN TAATTAAIVP GSQLMPSKSP
STGTTEISSH ESSHGTPSQT TAKNWELTAS ASHQPPGVYP QGHSDTTVAI STSTVLLCGL
SAVSLLACYL KSRASVCSCH PRSAGHTCSV GSVC*

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

16 / 16

Last intron/exon boundary

413

Theoretical NMD boundary in CDS

347

Length of CDS

465

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

14349

Chromosomal position

5963839

Speed

0.02 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:

10:5963839C>G_2_ENST00000528354

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 30|170 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:5963839C>G (GRCh38)

Gene symbol

IL15RA

Gene constraints

LOEUF: 1.37, LOF (oe): 0.93, misssense (oe): 1.01, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000528354.5

Genbank transcript ID

NM_172200 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.283+2306G>C
g.14349G>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs890250341
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	7	7

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.434	1
	1.287	1
(flanking)	1.26	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TGGTTATCCTCTCTCTAGGAGACCCTGCCCTGGTTCACCAA

Altered gDNA sequence snippet

TGGTTATCCTCTCTCTAGGACACCCTGCCCTGGTTCACCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAPRRARGCR TLGLPALLLL LLLRPPATRG ITCPPPMSVE HADIWVKSYS LYSRERYICN
SGFKRKAGTS SLTECVLNKA TNVAHWTTPS LKCIKPAASS PSSNNTAATT AAIVPGSQLM
PSKSPSTGTT EISSHESSHG TPSQTTAKNW ELTASASHQP PGVYPQGHSD TTVAISTSTV
LLCGLSAVSL LACYLKSRQT PPLASVEMEA MEALPVTWGT SSRDEDLENC SHHL*

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

31 / 31

Last intron/exon boundary

623

Theoretical NMD boundary in CDS

542

Length of CDS

705

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

14349

Chromosomal position

5963839

Speed

0.02 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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