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: ENST00000435030
Querying Taster for transcript #2: ENST00000677891
Querying Taster for transcript #3: ENST00000677843
Querying Taster for transcript #4: ENST00000678056
Querying Taster for transcript #5: ENST00000677280
MT speed 0.27 s - this script 2.732161 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000678056	KIF5C	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000435030(MANE Select)	KIF5C	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000677280	KIF5C	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000677891	KIF5C	Deleterious	92\|8	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000677843	KIF5C	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

2:148875696G>A_4_ENST00000678056

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:148875696G>A (GRCh38)

Gene symbol

KIF5C

Gene constraints

LOEUF: 0.26, LOF (oe): 0.17, misssense (oe): 0.69, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000678056.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.79G>A
g.470G>A

AA changes

AAE:	D27N	?
Score:	23

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T	V
mutated	all conserved	27	R	P	L	N	E	A	E	I	L	R	G	N	K	F	I	P	K	F	K	G	D	E	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)	0.411	0.997
	9.62	1
(flanking)	7.171	1

?

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

2

Strand

1

Original gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Original cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Wildtype AA sequence

MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KLLASTRRDY EKIQEELTRL QIENEAAKDE VKEVLQALEE LAVNYDQKSQ
EVEDKTRANE QLTDELAQKT TTLTTTQREL SQLQELSNHQ KKRATEILNL LLKDLGEIGG
IIGTNDVKTL ADVNGVIEEE FTMARLYISK MKSEVKSLVN RSKQLESAQM DSNRKMNASE
RELAACQLLI SQHEAKIKSL TDYMQNMEQK RRQLEESQDS LSEELAKLRA QEKMHEVSFQ
DKEKEHLTRL QDAEEMKKAL EQQMESHREA HQKQLSRLRD EIEEKQKIID EIRDLNQKLQ
LEQEKLSSDY NKLKIEDQER EMKLEKLLLL NDKREQARED LKGLEETVSR ELQTLHNLRK
LFVQDLTTRV KKSVELDNDD GGGSAAQKQK ISFLENNLEQ LTKVHKQLVR DNADLRCELP
KLEKRLRATA ERVKALESAL KEAKENAMRD RKRYQQEVDR IKEAVRAKNM ARRAHSAQIA
KPIRPGHYPA SSPTAVHAIR GGGGSSSNST HYQK*

Mutated AA sequence

MADPAECSIK VMCRFRPLNE AEILRGNKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KLLASTRRDY EKIQEELTRL QIENEAAKDE VKEVLQALEE LAVNYDQKSQ
EVEDKTRANE QLTDELAQKT TTLTTTQREL SQLQELSNHQ KKRATEILNL LLKDLGEIGG
IIGTNDVKTL ADVNGVIEEE FTMARLYISK MKSEVKSLVN RSKQLESAQM DSNRKMNASE
RELAACQLLI SQHEAKIKSL TDYMQNMEQK RRQLEESQDS LSEELAKLRA QEKMHEVSFQ
DKEKEHLTRL QDAEEMKKAL EQQMESHREA HQKQLSRLRD EIEEKQKIID EIRDLNQKLQ
LEQEKLSSDY NKLKIEDQER EMKLEKLLLL NDKREQARED LKGLEETVSR ELQTLHNLRK
LFVQDLTTRV KKSVELDNDD GGGSAAQKQK ISFLENNLEQ LTKVHKQLVR DNADLRCELP
KLEKRLRATA ERVKALESAL KEAKENAMRD RKRYQQEVDR IKEAVRAKNM ARRAHSAQIA
KPIRPGHYPA SSPTAVHAIR GGGGSSSNST HYQK*

Position of stopcodon in wt / mu CDS

2805 / 2805

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

935 / 935

Position of stopcodon in wt / mu cDNA

3196 / 3196

Position of start ATG in wt / mu cDNA

392 / 392

Last intron/exon boundary

3203

Theoretical NMD boundary in CDS

2761

Length of CDS

2805

Coding sequence (CDS) position

79

cDNA position

470

gDNA position

470

Chromosomal position

148875696

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

MutationT@ster 2025

Variant:

2:148875696G>A_1_ENST00000435030

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:148875696G>A (GRCh38)

Gene symbol

KIF5C

Gene constraints

LOEUF: 0.25, LOF (oe): 0.17, misssense (oe): 0.69, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000435030.6

Genbank transcript ID

NM_004522 (exact from MANE)

UniProt / AlphaMissense peptide

KIF5C_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.79G>A
g.470G>A

AA changes

AAE:	D27N	?
Score:	23

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T	V
mutated	all conserved	27	R	P	L	N	E	A	E	I	L	R	G	N	K	F	I	P	K	F	K	G	D	E	T
Ptroglodytes	all identical	27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T
Mmulatta	all identical	27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T
Fcatus	all identical	27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T
Mmusculus	all identical	27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	E	E	T
Ggallus	all identical	27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	E	E	T
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	27	R	P	L	N	K	A	E	I	Q	R	G	D	K	F	I	P	V	F	K	G	E	D	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	957	CHAIN		lost
8	327	DOMAIN	Kinesin motor	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.411	0.997
	9.62	1
(flanking)	7.171	1

?

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

2

Strand

1

Original gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Original cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Wildtype AA sequence

MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
REDLKGLEET VSRELQTLHN LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN
LEQLTKVHKQ LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE
VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS NSTHYQK*

Mutated AA sequence

MADPAECSIK VMCRFRPLNE AEILRGNKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
REDLKGLEET VSRELQTLHN LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN
LEQLTKVHKQ LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE
VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS NSTHYQK*

Position of stopcodon in wt / mu CDS

2874 / 2874

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

958 / 958

Position of stopcodon in wt / mu cDNA

3265 / 3265

Position of start ATG in wt / mu cDNA

392 / 392

Last intron/exon boundary

3272

Theoretical NMD boundary in CDS

2830

Length of CDS

2874

Coding sequence (CDS) position

79

cDNA position

470

gDNA position

470

Chromosomal position

148875696

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

Back to summary table

MutationT@ster 2025

Variant:

2:148875696G>A_5_ENST00000677280

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:148875696G>A (GRCh38)

Gene symbol

KIF5C

Gene constraints

LOEUF: 0.26, LOF (oe): 0.17, misssense (oe): 0.69, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000677280.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.79G>A
g.470G>A

AA changes

AAE:	D27N	?
Score:	23

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T	V
mutated	all conserved	27	R	P	L	N	E	A	E	I	L	R	G	N	K	F	I	P	K	F	K	G	D	E	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)	0.411	0.997
	9.62	1
(flanking)	7.171	1

?

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

2

Strand

1

Original gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Original cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Wildtype AA sequence

MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK ALEQQMESHR EAHQKQLSRL
RDEIEEKQKI IDEIRDLNQK LQLEQEKLSS DYNKLKIEDQ EREMKLEKLL LLNDKREQAR
EDLKGLEETV SRELQTLHNL RKLFVQDLTT RVKKSVELDN DDGGGSAAQK QKISFLENNL
EQLTKVHKQL VRDNADLRCE LPKLEKRLRA TAERVKALES ALKEAKENAM RDRKRYQQEV
DRIKEAVRAK NMARRAHSAQ IAKPIRPGHY PASSPTAVHA IRGGGGSSSN STHYQK*

Mutated AA sequence

MADPAECSIK VMCRFRPLNE AEILRGNKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK ALEQQMESHR EAHQKQLSRL
RDEIEEKQKI IDEIRDLNQK LQLEQEKLSS DYNKLKIEDQ EREMKLEKLL LLNDKREQAR
EDLKGLEETV SRELQTLHNL RKLFVQDLTT RVKKSVELDN DDGGGSAAQK QKISFLENNL
EQLTKVHKQL VRDNADLRCE LPKLEKRLRA TAERVKALES ALKEAKENAM RDRKRYQQEV
DRIKEAVRAK NMARRAHSAQ IAKPIRPGHY PASSPTAVHA IRGGGGSSSN STHYQK*

Position of stopcodon in wt / mu CDS

2871 / 2871

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

957 / 957

Position of stopcodon in wt / mu cDNA

3262 / 3262

Position of start ATG in wt / mu cDNA

392 / 392

Last intron/exon boundary

3269

Theoretical NMD boundary in CDS

2827

Length of CDS

2871

Coding sequence (CDS) position

79

cDNA position

470

gDNA position

470

Chromosomal position

148875696

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:

2:148875696G>A_2_ENST00000677891

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:148875696G>A (GRCh38)

Gene symbol

KIF5C

Gene constraints

LOEUF: 0.25, LOF (oe): 0.17, misssense (oe): 0.69, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000677891.1

Genbank transcript ID

UniProt / AlphaMissense peptide

KIF5C_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.79G>A
g.470G>A

AA changes

AAE:	D27N	?
Score:	23

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T	V
mutated	all conserved	27	R	P	L	N	E	A	E	I	L	R	G	N	K	F	I	P	K	F	K	G	D	E	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

Start (aa)	End (aa)	Feature	Details
1	957	CHAIN		lost
8	327	DOMAIN	Kinesin motor	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.411	0.997
	9.62	1
(flanking)	7.171	1

?

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

2

Strand

1

Original gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Original cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Wildtype AA sequence

MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
REDLKGLEET VSRELQTLHN LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN
LEQLTKVHKQ LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE
VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS NSTHYQK*

Mutated AA sequence

MADPAECSIK VMCRFRPLNE AEILRGNKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
REDLKGLEET VSRELQTLHN LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN
LEQLTKVHKQ LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE
VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS NSTHYQK*

Position of stopcodon in wt / mu CDS

2874 / 2874

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

958 / 958

Position of stopcodon in wt / mu cDNA

3265 / 3265

Position of start ATG in wt / mu cDNA

392 / 392

Last intron/exon boundary

3272

Theoretical NMD boundary in CDS

2830

Length of CDS

2874

Coding sequence (CDS) position

79

cDNA position

470

gDNA position

470

Chromosomal position

148875696

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

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MutationT@ster 2025

Variant:

2:148875696G>A_3_ENST00000677843

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:148875696G>A (GRCh38)

Gene symbol

KIF5C

Gene constraints

LOEUF: 0.22, LOF (oe): 0.14, misssense (oe): 0.69, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000677843.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.79G>A
g.470G>A

AA changes

AAE:	D27N	?
Score:	23

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		27	R	P	L	N	E	A	E	I	L	R	G	D	K	F	I	P	K	F	K	G	D	E	T	V
mutated	all conserved	27	R	P	L	N	E	A	E	I	L	R	G	N	K	F	I	P	K	F	K	G	D	E	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)	0.411	0.997
	9.62	1
(flanking)	7.171	1

?

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

2

Strand

1

Original gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered gDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Original cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGGACAAATTCATCCCCAAATTT

Altered cDNA sequence snippet

AAGCGGAGATCCTCCGCGGGAACAAATTCATCCCCAAATTT

Wildtype AA sequence

MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
REDLKGLEET VSVELDNDDG GGSAAQKQKI SFLENNLEQL TKVHKQLVRD NADLRCELPK
LEKRLRATAE RVKALESALK EAKENAMRDR KRYQQEVDRI KEAVRAKNMA RRAHSAQIAK
PIRPGHYPAS SPTAVHAIRG GGGSSSNSTH YQK*

Mutated AA sequence

MADPAECSIK VMCRFRPLNE AEILRGNKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
REDLKGLEET VSVELDNDDG GGSAAQKQKI SFLENNLEQL TKVHKQLVRD NADLRCELPK
LEKRLRATAE RVKALESALK EAKENAMRDR KRYQQEVDRI KEAVRAKNMA RRAHSAQIAK
PIRPGHYPAS SPTAVHAIRG GGGSSSNSTH YQK*

Position of stopcodon in wt / mu CDS

2802 / 2802

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

934 / 934

Position of stopcodon in wt / mu cDNA

3193 / 3193

Position of start ATG in wt / mu cDNA

392 / 392

Last intron/exon boundary

3200

Theoretical NMD boundary in CDS

2758

Length of CDS

2802

Coding sequence (CDS) position

79

cDNA position

470

gDNA position

470

Chromosomal position

148875696

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

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