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: ENST00000255078
Querying Taster for transcript #2: ENST00000675615
MT speed 0.09 s - this script 2.523224 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
ENST00000255078(MANE Select)	IGHMBP2	Benign	16\|84	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000675615	IGHMBP2	Benign	28\|72	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD

MutationT@ster 2025

Variant:

11:68936840C>T_1_ENST00000255078

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr11:68936840C>T (GRCh38)

Gene symbol

IGHMBP2

Gene constraints

LOEUF: 1.02, LOF (oe): 0.84, misssense (oe): 0.91, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000255078.8

Genbank transcript ID

NM_002180 (exact from MANE)

UniProt / AlphaMissense peptide

SMBP2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2360C>T
g.32978C>T

AA changes

AAE:	P787L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141594765
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	3	1225	1228

Protein conservation

Species	Match	AA	Alignment
Human		787	K	R	R	F	I	T	V	S	K	R	A	P	R	P	R	A	A	L	G	P	P	A	G	T
mutated	not conserved	787						T	V	S	K	R	A	L	R	P	R	A	A	L	G	P	P	A	G
Ptroglodytes	not conserved	787						T	V	S	K	R	A	PPAL	R	P	R	A	A	L	G	P	P	A	G
Mmulatta	all identical	787						T	V	S	K	RAPP	A	P	R	P	P	A	A	P	G	P	P	A	G
Fcatus	all identical	644	K	K	R	F	I	T	V	S	K	R	A	P	P	-	-	-	-	-	A	P	P	P	P
Mmusculus	not conserved	785						T	V	S	R	R	S	-	-	-	-	-	-	-	-	-	P	A	S
Ggallus	not conserved	773						S	V	R	K	K	-	-	E	F	G	Q	A	V	V	A	P	A	A
Trubripes	not conserved	776					I	T	V	S	-	-	-	-	-	-	R	P	V	K	P	V	P	A	E
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no alignment	n/a
Xtropicalis	not conserved	776								T	K	P	K	A	I	S	A	D	A	V	S	S	Q	T	D

Protein features

Start (aa)	End (aa)	Feature	Details
2	993	CHAIN		lost
782	828	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.331	0
	-3.293	0
(flanking)	-0.373	0

?

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

11

Strand

1

Original gDNA sequence snippet

CACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGG

Altered gDNA sequence snippet

CACTGTGAGCAAGAGGGCCCTGCGACCCCGAGCAGCCCTGG

Original cDNA sequence snippet

CACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGG

Altered cDNA sequence snippet

CACTGTGAGCAAGAGGGCCCTGCGACCCCGAGCAGCCCTGG

Wildtype AA sequence

MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY
GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE
SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS
EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC
CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP
LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL
SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA
TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP
YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS
HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV
ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI
TVSKRAPRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR
VRSAQGQPAS KEQQASGQQK LPEKKKKKAK GHPATDLPTE EDFEALVSAA VKADNTCGFA
KCTAGVTTLG QFCQLCSRRY CLSHHLPEIH GCGERARAHA RQRISREGVL YAGSGTKNGS
LDPAKRAQLQ RRLDKKLSEL SNQRTSRRKE RGT*

Mutated AA sequence

MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY
GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE
SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS
EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC
CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP
LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL
SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA
TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP
YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS
HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV
ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI
TVSKRALRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR
VRSAQGQPAS KEQQASGQQK LPEKKKKKAK GHPATDLPTE EDFEALVSAA VKADNTCGFA
KCTAGVTTLG QFCQLCSRRY CLSHHLPEIH GCGERARAHA RQRISREGVL YAGSGTKNGS
LDPAKRAQLQ RRLDKKLSEL SNQRTSRRKE RGT*

Position of stopcodon in wt / mu CDS

2982 / 2982

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

994 / 994

Position of stopcodon in wt / mu cDNA

3044 / 3044

Position of start ATG in wt / mu cDNA

63 / 63

Last intron/exon boundary

2846

Theoretical NMD boundary in CDS

2733

Length of CDS

2982

Coding sequence (CDS) position

2360

cDNA position

2422

gDNA position

32978

Chromosomal position

68936840

Speed

0.05 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:

11:68936840C>T_2_ENST00000675615

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 28|72 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:68936840C>T (GRCh38)

Gene symbol

IGHMBP2

Gene constraints

LOEUF: 0.99, LOF (oe): 0.81, misssense (oe): 0.93, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000675615.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2360C>T
g.32978C>T

AA changes

AAE:	P787L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs141594765
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	3	1225	1228

Protein conservation

Species	Match	AA	Alignment
Human		787	K	R	R	F	I	T	V	S	K	R	A	P	R	P	R	A	A	L	G	P	P	A	G	T
mutated	not conserved	787						T	V	S	K	R	A	L	R	P	R	A	A	L	G	P	P	A	G
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)	-0.331	0
	-3.293	0
(flanking)	-0.373	0

?

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

11

Strand

1

Original gDNA sequence snippet

CACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGG

Altered gDNA sequence snippet

CACTGTGAGCAAGAGGGCCCTGCGACCCCGAGCAGCCCTGG

Original cDNA sequence snippet

CACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGG

Altered cDNA sequence snippet

CACTGTGAGCAAGAGGGCCCTGCGACCCCGAGCAGCCCTGG

Wildtype AA sequence

MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY
GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE
SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS
EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC
CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP
LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL
SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA
TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP
YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS
HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV
ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI
TVSKRAPRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR
VRSAQGQPAS KEQQASGQQK LPEKKKKKAK DPWLR*

Mutated AA sequence

MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL QVSSQRTGLY
GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ LATGILTRVT QKSVTVAFDE
SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK ALIALKKYHS GPASSLIEVL FGRSAPSPAS
EIHPLTFFNT CLDTSQKEAV LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC
CAPSNIAVDN LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA TNTGASADGP
LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD HKQLPPTTVS HKAALAGLSL
SLMERLAEEY GARVVRTLTV QYRMHQAIMR WASDTMYLGQ LTAHSSVARH LLRDLPGVAA
TEETGVPLLL VDTAGCGLFE LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP
YNLQVDLLRQ SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN YSHENSQGSS
HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK SLASEAPSQP SLNGGSPEGV
ESQDGVDHFR AMIVEFMASK KMQLEFPPSL NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI
TVSKRALRPR AALGPPAGTG GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR
VRSAQGQPAS KEQQASGQQK LPEKKKKKAK DPWLR*

Position of stopcodon in wt / mu CDS

2628 / 2628

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

876 / 876

Position of stopcodon in wt / mu cDNA

2718 / 2718

Position of start ATG in wt / mu cDNA

91 / 91

Last intron/exon boundary

2701

Theoretical NMD boundary in CDS

2560

Length of CDS

2628

Coding sequence (CDS) position

2360

cDNA position

2450

gDNA position

32978

Chromosomal position

68936840

Speed

0.04 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