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: ENST00000524189
Querying Taster for transcript #2: ENST00000521515
MT speed 0.04 s - this script 2.420784 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
ENST00000521515	KIF13B	Benign	0\|200	without_aae		No				Single base exchange		N/A	Homozygous in gnomAD
ENST00000524189(MANE Select)	KIF13B	Benign	1\|199	without_aae		No				Single base exchange		N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

8:29200391G>A_2_ENST00000521515

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr8:29200391G>A (GRCh38)

Gene symbol

KIF13B

Gene constraints

LOEUF: 0.73, LOF (oe): 0.54, misssense (oe): 0.81, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000521515.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.150-4192C>T
g.62734C>T

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	rs17456025
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1242	15733	16975

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.533	0.002
	0.107	0
(flanking)	0.034	0

?

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

8

Strand

-1

Original gDNA sequence snippet

TGCTTGTACTTGAGACATTTCTCTGGATTGGTCAGCAGCTG

Altered gDNA sequence snippet

TGCTTGTACTTGAGACATTTTTCTGGATTGGTCAGCAGCTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGDSKVKVAV RIRPMNRRET DLHTKCVVDV DANKVILNPV NTNLSKGDAR GQPKVFAYDH
CFWSMDESVK EKYAGQDIVF KCLGENILQN AFDGYNACIF AYGQTGSGKS YTMMGTADQP
GLIPRLCSGL FERTQKEENE EQSFKVEVSY MEIYNEKVRD LLDPKGSRQT LKVREHSVLG
PYVDGLSKLA VTSYKDIESL MSEGNKSRTV AATNMNEESS RSHAVFKITL THTLYDVKSG
TSGEKVGKLS LVDLAGSERA TKTGAAGDRL KEGSNINKSL TTLGLVISAL ADQSAGKNKN
KFVPYRDSVL TWLLKDSLGG NSKTAMVATV SPAADNYDET LSTLRYADRA KHIVNHAVVN
EDPNARIIRD LREEVEKLRE QLTKAEAMKS PELKDRLEES EKLIQEMTVT WEEKLRKTEE
IAQERQKQLE SLGISLQSSG IKVGDDKCFL VNLNADPALN ELLVYYLKEH TLIGSANSQD
IQLCGMGILP EHCIIDITSE GQVMLTPQKN TRTFVNGSSV SSPIQLHHGD RILWGNNHFF
RLNLPKKKKK AEREDEDQDP SMKNENSSEQ LDVDGDSSSE VSSEVNFNYE YAQMEVTMKA
LGSNDPMQSI LNSLEQQHEE EKRSALERQR LMYEHELEQL RRRLSPEKQN CRSMDRFSFH
SPSAQQRLRQ WAEEREATLN NSLMRLREQI VKANLLVREA NYIAEELDKR TEYKVTLQIP
ASSLDANRKV RLPFLEKNKD LIG*

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

64 / 64

Last intron/exon boundary

2087

Theoretical NMD boundary in CDS

1973

Length of CDS

2232

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

62734

Chromosomal position

29200391

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:

8:29200391G>A_1_ENST00000524189

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 1|199 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr8:29200391G>A (GRCh38)

Gene symbol

KIF13B

Gene constraints

LOEUF: 0.74, LOF (oe): 0.62, misssense (oe): 0.95, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000524189.6

Genbank transcript ID

NM_015254 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.150-4192C>T
g.62734C>T

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	rs17456025
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1242	15733	16975

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.533	0.002
	0.107	0
(flanking)	0.034	0

?

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

8

Strand

-1

Original gDNA sequence snippet

TGCTTGTACTTGAGACATTTCTCTGGATTGGTCAGCAGCTG

Altered gDNA sequence snippet

TGCTTGTACTTGAGACATTTTTCTGGATTGGTCAGCAGCTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGDSKVKVAV RIRPMNRRET DLHTKCVVDV DANKVILNPV NTNLSKGDAR GQPKVFAYDH
CFWSMDESVK EKYAGQDIVF KCLGENILQN AFDGYNACIF AYGQTGSGKS YTMMGTADQP
GLIPRLCSGL FERTQKEENE EQSFKVEVSY MEIYNEKVRD LLDPKGSRQT LKVREHSVLG
PYVDGLSKLA VTSYKDIESL MSEGNKSRTV AATNMNEESS RSHAVFKITL THTLYDVKSG
TSGEKVGKLS LVDLAGSERA TKTGAAGDRL KEGSNINKSL TTLGLVISAL ADQSAGKNKN
KFVPYRDSVL TWLLKDSLGG NSKTAMVATV SPAADNYDET LSTLRYADRA KHIVNHAVVN
EDPNARIIRD LREEVEKLRE QLTKAEAMKS PELKDRLEES EKLIQEMTVT WEEKLRKTEE
IAQERQKQLE SLGISLQSSG IKVGDDKCFL VNLNADPALN ELLVYYLKEH TLIGSANSQD
IQLCGMGILP EHCIIDITSE GQVMLTPQKN TRTFVNGSSV SSPIQLHHGD RILWGNNHFF
RLNLPKKKKK AEREDEDQDP SMKNENSSEQ LDVDGDSSSE VSSEVNFNYE YAQMEVTMKA
LGSNDPMQSI LNSLEQQHEE EKRSALERQR LMYEHELEQL RRRLSPEKQN CRSMDRFSFH
SPSAQQRLRQ WAEEREATLN NSLMRLREQI VKANLLVREA NYIAEELDKR TEYKVTLQIP
ASSLDANRKR GSLLSEPAIQ VRRKGKGKQI WSLEKLDNRL LDMRDLYQEW KECEEDNPVI
RSYFKRADPF YDEQENHSLI GVANVFLESL FYDVKLQYAV PIINQKGEVA GRLHVEVMRL
SGDVGERIAG GDEVAEVSFE KETQENKLVC MVKILQATGL PQHLSHFVFC KYSFWDQQEP
VIVAPEVDTS SSSVSKEPHC MVVFDHCNEF SVNITEDFIE HLSEGALAIE VYGHKINDPR
KNPALWDLGI IQAKTRSLRD RWSEVTRKLE FWVQILEQNE NGEYCPVEVI SAKDVPTGGI
FQLRQGQSRR VQVEVKSVQE SGTLPLMEEC ILSVGIGCVK VRPLRAPRTH ETFHEEEEDM
DSYQDRDLER LRRKWLNALT KRQEYLDQQL QKLVSKRDKT EDDADREAQL LEMRLTLTEE
RNAVMVPSAG SGIPGAPAEW TPVPGMETHI PVIFLDLNAD DFSSQDNLDD PEAGGWDATL
TGEEEEEFFE LQIVKQHDGE VKAEASWDSA VHGCPQLSRG TPVDERLFLI VRVTVQLSHP
ADMQLVLRKR ICVNVHGRQG FAQSLLKKMS HRSSIPGCGV TFEIVSNIPE DAQGVEEREA
LARMAANVEN PASADSEAYI EKYLRSVLAV ENLLTLDRLR QEVAVKEQLT GKGKLSRRSI
SSPNVNRLSG SRQDLIPSYS LGSNKGRWES QQDVSQTTVS RGIAPAPALS VSPQNNHSPD
PGLSNLAASY LNPVKSFVPQ MPKLLKSLFP VRDEKRGKRP SPLAHQPVPR IMVQSASPDI
RVTRMEEAQP EMGPDVLVQT MGAPALKICD KPAKVPSPPP VIAVTAVTPA PEAQDGPPSP
LSEASSGYFS HSVSTATLSD ALGPGLDAAA PPGSMPTAPE AEPEAPISHP PPPTAVPAEE
PPGPQQLVSP GRERPDLEAP APGSPFRVRR VRASELRSFS RMLAGDPGCS PGAEGNAPAP
GAGGQALASD SEEADEVPEW LREGEFVTVG AHKTGVVRYV GPADFQEGTW VGVELDLPSG
KNDGSIGGKQ YFRCNPGYGL LVRPSRVRRA TGPVRRRSTG LRLGAPEARR SATLSGSATN
LASLTAALAK ADRSHKNPEN RKSWAS*

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

37 / 37

Last intron/exon boundary

5254

Theoretical NMD boundary in CDS

5167

Length of CDS

5481

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

62734

Chromosomal position

29200391

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