MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000395629
Querying Taster for transcript #2: ENST00000241014
MT speed 0.74 s - this script 3.196376 s

Transcript summary:

Permalink

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
ENST00000395629	MAPK8IP1	Deleterious	67\|33	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed
ENST00000241014(MANE Select)	MAPK8IP1	Benign	49\|51	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

11:45902038G>A_1_ENST00000395629

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 67|33 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:45902038G>A (GRCh38)

Gene symbol

MAPK8IP1

Gene constraints

LOEUF: 0.40, LOF (oe): 0.26, misssense (oe): 0.82, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000395629.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.551G>A
g.16388G>A

AA changes

AAE:	R184Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748728854
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	47	47

Protein conservation

Species	Match	AA	Alignment
Human		184	G	K	K	H	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	E	Q	T	P
mutated	all conserved	184									R	V	S	Q	S	S	S	P	L	K	T	G	E	Q	T
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)	1.394	0.994
	5.876	1
(flanking)	-0.544	0.092

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

TTGGCAGGATCGGGTGTCTCGATCATCCTCACCCCTGAAGA

Altered gDNA sequence snippet

TTGGCAGGATCGGGTGTCTCAATCATCCTCACCCCTGAAGA

Original cDNA sequence snippet

TTGGCAGGATCGGGTGTCTCGATCATCCTCACCCCTGAAGA

Altered cDNA sequence snippet

TTGGCAGGATCGGGTGTCTCAATCATCCTCACCCCTGAAGA

Wildtype AA sequence

MQLVLKMDSS PDNDSWLEDQ WERWLTHDIS LEEFEDEDLS EITDECGISL QCKDTLSLRP
PRAGLLSAGG GGAGSRLQAE MLQMDLIDAT GDTPGAEDDE EDDDEERAAR RPGAGPPKAE
SGQEPASRGQ GQSQGQSQGP GSGDTYRPKR PTTLNLFPQV PRSQDTLNNN SLGKKHSWQD
RVSRSSSPLK TGEQTPPHEH ICLSDELPPQ SGPAPTTDRG TSTDSPCRRS TATQMAPPGG
PPAAPPGGRG HSHRDRIHYQ ADVRLEATEE IYLTPVQRPP DAAEPTSAFL PPTESRMSVS
SDPDPAAYPS TAGRPHPSIS EEEEGFDCLS SPERAEPPGG GWRGSLGEPP PPPRASLSSD
TSALSYDSVK YTLVVDEHAQ LELVSLRPCF GDYSDESDSA TVYDNCASVS SPYESAIGEE
YEEAPRPQPP ACLSEDSTPD EPDVHFSKKF LNVFMSGRSR SSSAESFGLF SCIINGEEQE
QTHRAIFRFV PRHEDELELE VDDPLLVELQ AEDYWYEAYN MRTGARGVFP AYYAIEVTKE
PEHMAALAKN SDWVDQFRVK FLGSVQVPYH KGNDVLCAAM QKIATTRRLT VHFNPPSSCV
LEISVRGVKI GVKADDSQEA KGNKCSHFFQ LKNISFCGYH PKNNKYFGFI TKHPADHRFA
CHVFVSEDST KALAESVGRA FQQFYKQFVE YTCPTEDIYL E*

Mutated AA sequence

MQLVLKMDSS PDNDSWLEDQ WERWLTHDIS LEEFEDEDLS EITDECGISL QCKDTLSLRP
PRAGLLSAGG GGAGSRLQAE MLQMDLIDAT GDTPGAEDDE EDDDEERAAR RPGAGPPKAE
SGQEPASRGQ GQSQGQSQGP GSGDTYRPKR PTTLNLFPQV PRSQDTLNNN SLGKKHSWQD
RVSQSSSPLK TGEQTPPHEH ICLSDELPPQ SGPAPTTDRG TSTDSPCRRS TATQMAPPGG
PPAAPPGGRG HSHRDRIHYQ ADVRLEATEE IYLTPVQRPP DAAEPTSAFL PPTESRMSVS
SDPDPAAYPS TAGRPHPSIS EEEEGFDCLS SPERAEPPGG GWRGSLGEPP PPPRASLSSD
TSALSYDSVK YTLVVDEHAQ LELVSLRPCF GDYSDESDSA TVYDNCASVS SPYESAIGEE
YEEAPRPQPP ACLSEDSTPD EPDVHFSKKF LNVFMSGRSR SSSAESFGLF SCIINGEEQE
QTHRAIFRFV PRHEDELELE VDDPLLVELQ AEDYWYEAYN MRTGARGVFP AYYAIEVTKE
PEHMAALAKN SDWVDQFRVK FLGSVQVPYH KGNDVLCAAM QKIATTRRLT VHFNPPSSCV
LEISVRGVKI GVKADDSQEA KGNKCSHFFQ LKNISFCGYH PKNNKYFGFI TKHPADHRFA
CHVFVSEDST KALAESVGRA FQQFYKQFVE YTCPTEDIYL E*

Position of stopcodon in wt / mu CDS

2106 / 2106

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

702 / 702

Position of stopcodon in wt / mu cDNA

2436 / 2436

Position of start ATG in wt / mu cDNA

331 / 331

Last intron/exon boundary

2363

Theoretical NMD boundary in CDS

1982

Length of CDS

2106

Coding sequence (CDS) position

551

cDNA position

881

gDNA position

16388

Chromosomal position

45902038

Speed

0.21 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:

11:45902038G>A_2_ENST00000241014

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:45902038G>A (GRCh38)

Gene symbol

MAPK8IP1

Gene constraints

LOEUF: 0.38, LOF (oe): 0.25, misssense (oe): 0.85, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000241014.6

Genbank transcript ID

NM_005456 (exact from MANE)

UniProt / AlphaMissense peptide

JIP1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.581G>A
g.16388G>A

AA changes

AAE:	R194Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748728854
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	47	47

Protein conservation

Species	Match	AA	Alignment
Human		194	G	K	K	H	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	E	Q	T	P
mutated	all conserved	194	G	K	K	H	S	W	Q	D	R	V	S	Q	S	S	S	P	L	K	T	G	E	Q	T
Ptroglodytes	all identical	194	G	K	K	H	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	E	Q	T
Mmulatta	all identical	238	G	K	K	H	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	E	Q	T
Fcatus	all identical	186	G	K	K	H	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	E	Q	T
Mmusculus	all identical	190	G	K	K	H	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	E	Q	T
Ggallus	all identical	165	G	K	K	H	S	W	Q	E	R	V	S	R	S	S	S	P	L	K
Trubripes	not conserved	169	G	K	K	Y	S	W	Q	E	K	V	S	G	S	S	S	P	L	K	A	G	E	L	T
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	163	A	K	K	Y	S	W	Q	D	R	V	S	R	S	S	S	P	L	K	T	G	D	T	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	711	CHAIN		lost
78	371	REGION		lost
127	285	REGION		lost
166	203	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.394	0.994
	5.876	1
(flanking)	-0.544	0.092

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

1

Original gDNA sequence snippet

TTGGCAGGATCGGGTGTCTCGATCATCCTCACCCCTGAAGA

Altered gDNA sequence snippet

TTGGCAGGATCGGGTGTCTCAATCATCCTCACCCCTGAAGA

Original cDNA sequence snippet

TTGGCAGGATCGGGTGTCTCGATCATCCTCACCCCTGAAGA

Altered cDNA sequence snippet

TTGGCAGGATCGGGTGTCTCAATCATCCTCACCCCTGAAGA

Wildtype AA sequence

MAERESGGLG GGAASPPAAS PFLGLHIASP PNFRLTHDIS LEEFEDEDLS EITDECGISL
QCKDTLSLRP PRAGLLSAGG GGAGSRLQAE MLQMDLIDAT GDTPGAEDDE EDDDEERAAR
RPGAGPPKAE SGQEPASRGQ GQSQGQSQGP GSGDTYRPKR PTTLNLFPQV PRSQDTLNNN
SLGKKHSWQD RVSRSSSPLK TGEQTPPHEH ICLSDELPPQ SGPAPTTDRG TSTDSPCRRS
TATQMAPPGG PPAAPPGGRG HSHRDRIHYQ ADVRLEATEE IYLTPVQRPP DAAEPTSAFL
PPTESRMSVS SDPDPAAYPS TAGRPHPSIS EEEEGFDCLS SPERAEPPGG GWRGSLGEPP
PPPRASLSSD TSALSYDSVK YTLVVDEHAQ LELVSLRPCF GDYSDESDSA TVYDNCASVS
SPYESAIGEE YEEAPRPQPP ACLSEDSTPD EPDVHFSKKF LNVFMSGRSR SSSAESFGLF
SCIINGEEQE QTHRAIFRFV PRHEDELELE VDDPLLVELQ AEDYWYEAYN MRTGARGVFP
AYYAIEVTKE PEHMAALAKN SDWVDQFRVK FLGSVQVPYH KGNDVLCAAM QKIATTRRLT
VHFNPPSSCV LEISVRGVKI GVKADDSQEA KGNKCSHFFQ LKNISFCGYH PKNNKYFGFI
TKHPADHRFA CHVFVSEDST KALAESVGRA FQQFYKQFVE YTCPTEDIYL E*

Mutated AA sequence

MAERESGGLG GGAASPPAAS PFLGLHIASP PNFRLTHDIS LEEFEDEDLS EITDECGISL
QCKDTLSLRP PRAGLLSAGG GGAGSRLQAE MLQMDLIDAT GDTPGAEDDE EDDDEERAAR
RPGAGPPKAE SGQEPASRGQ GQSQGQSQGP GSGDTYRPKR PTTLNLFPQV PRSQDTLNNN
SLGKKHSWQD RVSQSSSPLK TGEQTPPHEH ICLSDELPPQ SGPAPTTDRG TSTDSPCRRS
TATQMAPPGG PPAAPPGGRG HSHRDRIHYQ ADVRLEATEE IYLTPVQRPP DAAEPTSAFL
PPTESRMSVS SDPDPAAYPS TAGRPHPSIS EEEEGFDCLS SPERAEPPGG GWRGSLGEPP
PPPRASLSSD TSALSYDSVK YTLVVDEHAQ LELVSLRPCF GDYSDESDSA TVYDNCASVS
SPYESAIGEE YEEAPRPQPP ACLSEDSTPD EPDVHFSKKF LNVFMSGRSR SSSAESFGLF
SCIINGEEQE QTHRAIFRFV PRHEDELELE VDDPLLVELQ AEDYWYEAYN MRTGARGVFP
AYYAIEVTKE PEHMAALAKN SDWVDQFRVK FLGSVQVPYH KGNDVLCAAM QKIATTRRLT
VHFNPPSSCV LEISVRGVKI GVKADDSQEA KGNKCSHFFQ LKNISFCGYH PKNNKYFGFI
TKHPADHRFA CHVFVSEDST KALAESVGRA FQQFYKQFVE YTCPTEDIYL E*

Position of stopcodon in wt / mu CDS

2136 / 2136

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

712 / 712

Position of stopcodon in wt / mu cDNA

2306 / 2306

Position of start ATG in wt / mu cDNA

171 / 171

Last intron/exon boundary

2233

Theoretical NMD boundary in CDS

2012

Length of CDS

2136

Coding sequence (CDS) position

581

cDNA position

751

gDNA position

16388

Chromosomal position

45902038

Speed

0.53 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