MutationTaster - study a chromosomal position

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...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000265529
Querying Taster for transcript #2: ENST00000444589
Querying Taster for transcript #3: ENST00000452770
Querying Taster for transcript #4: ENST00000335044
Querying Taster for transcript #5: ENST00000352910
MT speed 0 s - this script 5.48165 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
KIF9	polymorphism_automatic	0.865587990355643	simple_aae				R638W	single base exchange	rs2276853		show file
KIF9	polymorphism_automatic	0.865587990355643	simple_aae				R638W	single base exchange	rs2276853		show file
KIF9	polymorphism_automatic	0.865587990355643	simple_aae				R638W	single base exchange	rs2276853		show file
KIF9	polymorphism_automatic	0.971986290940314	simple_aae				R573W	single base exchange	rs2276853		show file
KIF9	polymorphism_automatic	0.971986290940314	simple_aae				R480W	single base exchange	rs2276853		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.134412009644357 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM168171)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:47282303G>AN/A show variant in all transcripts IGV

HGNC symbol

KIF9

Ensembl transcript ID

ENST00000265529

Genbank transcript ID

N/A

UniProt peptide

Q9HAQ2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1912C>T
cDNA.2593C>T
g.42639C>T

AA changes

R638W Score: 101 explain score(s)

position(s) of altered AA
if AA alteration in CDS

638

frameshift

known variant

Reference ID: rs2276853

database	homozygous (A/A)	heterozygous	allele carriers
1000G	802	1201	2003
ExAC	19953	-7139	12814

known disease mutation at this position, please check HGMD for details (HGMD ID CM168171)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.486	0.806
	0.46	0.362
(flanking)	-1.538	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	42631	wt: 0.8929 / mu: 0.8977 (marginal change - not scored)	wt: CCAGAAGTCACTACG mu: CCAGAAGTCACTATG	AGAA\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

638

mutated

not conserved

638

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015476

637

Mmusculus

all identical

ENSMUSG00000032489

638

Ggallus

all identical

ENSGALG00000005517

632

Trubripes

no homologue

Drerio

all identical

ENSDARG00000031693

464

Dmelanogaster

all conserved

FBgn0040232

1850

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2373 / 2373

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

791 / 791

position of stopcodon in wt / mu cDNA

3054 / 3054

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

682 / 682

chromosome

strand

-1

last intron/exon boundary

3004

theoretical NMD boundary in CDS

2272

length of CDS

2373

coding sequence (CDS) position

1912

cDNA position
(for ins/del: last normal base / first normal base)

2593

gDNA position
(for ins/del: last normal base / first normal base)

42639

chromosomal position
(for ins/del: last normal base / first normal base)

47282303

original gDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGTAAATGT

altered gDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGTAAATGT

original cDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGCAAGTAC

altered cDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGCAAGTAC

wildtype AA sequence

MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLSSLARK EGASSPVNGK DLDYVSTSKT QLVPSSKDGD
VKDMLSRDRE TSSIEPLPSD SPKEELRPIR PDTPPSKPVA FEEFKNEQGS EINRIFKENK
SILNERRKRA SETTQHINAI KREIDVTKEA LNFQKSLREK QGKYENKGLM IIDEEEFLLI
LKLKDLKKQY RSEYQDLRDL RAEIQYCQHL VDQCRHRLLM EFDIWYNESF VIPEDMQMAL
KPGGSIRPGM VPVNRIVSLG EDDQDKFSQL QQRVLPEGPD SISFYNAKVK IEQKHNYLKT
MMGLQQAHRK *

mutated AA sequence

MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLSSLARK EGASSPVNGK DLDYVSTSKT QLVPSSKDGD
VKDMLSRDRE TSSIEPLPSD SPKEELRPIR PDTPPSKPVA FEEFKNEQGS EINRIFKENK
SILNERRKRA SETTQHINAI KREIDVTKEA LNFQKSLWEK QGKYENKGLM IIDEEEFLLI
LKLKDLKKQY RSEYQDLRDL RAEIQYCQHL VDQCRHRLLM EFDIWYNESF VIPEDMQMAL
KPGGSIRPGM VPVNRIVSLG EDDQDKFSQL QQRVLPEGPD SISFYNAKVK IEQKHNYLKT
MMGLQQAHRK *

speed

1.11 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.134412009644357 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM168171)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:47282303G>AN/A show variant in all transcripts IGV

HGNC symbol

KIF9

Ensembl transcript ID

ENST00000452770

Genbank transcript ID

N/A

UniProt peptide

Q9HAQ2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1912C>T
cDNA.2246C>T
g.42639C>T

AA changes

R638W Score: 101 explain score(s)

position(s) of altered AA
if AA alteration in CDS

638

frameshift

known variant

Reference ID: rs2276853

database	homozygous (A/A)	heterozygous	allele carriers
1000G	802	1201	2003
ExAC	19953	-7139	12814

known disease mutation at this position, please check HGMD for details (HGMD ID CM168171)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.486	0.806
	0.46	0.362
(flanking)	-1.538	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	42631	wt: 0.8929 / mu: 0.8977 (marginal change - not scored)	wt: CCAGAAGTCACTACG mu: CCAGAAGTCACTATG	AGAA\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

638

mutated

not conserved

638

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015476

637

Mmusculus

all identical

ENSMUSG00000032489

638

Ggallus

all identical

ENSGALG00000005517

632

Trubripes

no homologue

Drerio

all identical

ENSDARG00000031693

464

Dmelanogaster

all conserved

FBgn0040232

1850

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2373 / 2373

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

791 / 791

position of stopcodon in wt / mu cDNA

2707 / 2707

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

335 / 335

chromosome

strand

-1

last intron/exon boundary

2657

theoretical NMD boundary in CDS

2272

length of CDS

2373

coding sequence (CDS) position

1912

cDNA position
(for ins/del: last normal base / first normal base)

2246

gDNA position
(for ins/del: last normal base / first normal base)

42639

chromosomal position
(for ins/del: last normal base / first normal base)

47282303

original gDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGTAAATGT

altered gDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGTAAATGT

original cDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGCAAGTAC

altered cDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGCAAGTAC

wildtype AA sequence

mutated AA sequence

MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLSSLARK EGASSPVNGK DLDYVSTSKT QLVPSSKDGD
VKDMLSRDRE TSSIEPLPSD SPKEELRPIR PDTPPSKPVA FEEFKNEQGS EINRIFKENK
SILNERRKRA SETTQHINAI KREIDVTKEA LNFQKSLWEK QGKYENKGLM IIDEEEFLLI
LKLKDLKKQY RSEYQDLRDL RAEIQYCQHL VDQCRHRLLM EFDIWYNESF VIPEDMQMAL
KPGGSIRPGM VPVNRIVSLG EDDQDKFSQL QQRVLPEGPD SISFYNAKVK IEQKHNYLKT
MMGLQQAHRK *

speed

1.15 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.134412009644357 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM168171)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:47282303G>AN/A show variant in all transcripts IGV

HGNC symbol

KIF9

Ensembl transcript ID

ENST00000335044

Genbank transcript ID

NM_182902

UniProt peptide

Q9HAQ2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1912C>T
cDNA.2270C>T
g.42639C>T

AA changes

R638W Score: 101 explain score(s)

position(s) of altered AA
if AA alteration in CDS

638

frameshift

known variant

Reference ID: rs2276853

database	homozygous (A/A)	heterozygous	allele carriers
1000G	802	1201	2003
ExAC	19953	-7139	12814

known disease mutation at this position, please check HGMD for details (HGMD ID CM168171)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.486	0.806
	0.46	0.362
(flanking)	-1.538	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	42631	wt: 0.8929 / mu: 0.8977 (marginal change - not scored)	wt: CCAGAAGTCACTACG mu: CCAGAAGTCACTATG	AGAA\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

638

mutated

not conserved

638

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015476

637

Mmusculus

all identical

ENSMUSG00000032489

638

Ggallus

all identical

ENSGALG00000005517

632

Trubripes

no homologue

Drerio

all identical

ENSDARG00000031693

464

Dmelanogaster

all conserved

FBgn0040232

1850

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2373 / 2373

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

791 / 791

position of stopcodon in wt / mu cDNA

2731 / 2731

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

359 / 359

chromosome

strand

-1

last intron/exon boundary

2681

theoretical NMD boundary in CDS

2272

length of CDS

2373

coding sequence (CDS) position

1912

cDNA position
(for ins/del: last normal base / first normal base)

2270

gDNA position
(for ins/del: last normal base / first normal base)

42639

chromosomal position
(for ins/del: last normal base / first normal base)

47282303

original gDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGTAAATGT

altered gDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGTAAATGT

original cDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGCAAGTAC

altered cDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGCAAGTAC

wildtype AA sequence

mutated AA sequence

MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLSSLARK EGASSPVNGK DLDYVSTSKT QLVPSSKDGD
VKDMLSRDRE TSSIEPLPSD SPKEELRPIR PDTPPSKPVA FEEFKNEQGS EINRIFKENK
SILNERRKRA SETTQHINAI KREIDVTKEA LNFQKSLWEK QGKYENKGLM IIDEEEFLLI
LKLKDLKKQY RSEYQDLRDL RAEIQYCQHL VDQCRHRLLM EFDIWYNESF VIPEDMQMAL
KPGGSIRPGM VPVNRIVSLG EDDQDKFSQL QQRVLPEGPD SISFYNAKVK IEQKHNYLKT
MMGLQQAHRK *

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0280137090596863 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM168171)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:47282303G>AN/A show variant in all transcripts IGV

HGNC symbol

KIF9

Ensembl transcript ID

ENST00000444589

Genbank transcript ID

NM_022342

UniProt peptide

Q9HAQ2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1717C>T
cDNA.2075C>T
g.42639C>T

AA changes

R573W Score: 101 explain score(s)

position(s) of altered AA
if AA alteration in CDS

573

frameshift

known variant

Reference ID: rs2276853

database	homozygous (A/A)	heterozygous	allele carriers
1000G	802	1201	2003
ExAC	19953	-7139	12814

known disease mutation at this position, please check HGMD for details (HGMD ID CM168171)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.486	0.806
	0.46	0.362
(flanking)	-1.538	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	42631	wt: 0.8929 / mu: 0.8977 (marginal change - not scored)	wt: CCAGAAGTCACTACG mu: CCAGAAGTCACTATG	AGAA\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

573

mutated

not conserved

573

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015476

637

Mmusculus

all identical

ENSMUSG00000032489

638

Ggallus

all identical

ENSGALG00000005517

632

Trubripes

no homologue

Drerio

all identical

ENSDARG00000031693

464

Dmelanogaster

all identical

FBgn0040232

1043

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2178 / 2178

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

726 / 726

position of stopcodon in wt / mu cDNA

2536 / 2536

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

359 / 359

chromosome

strand

-1

last intron/exon boundary

2486

theoretical NMD boundary in CDS

2077

length of CDS

2178

coding sequence (CDS) position

1717

cDNA position
(for ins/del: last normal base / first normal base)

2075

gDNA position
(for ins/del: last normal base / first normal base)

42639

chromosomal position
(for ins/del: last normal base / first normal base)

47282303

original gDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGTAAATGT

altered gDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGTAAATGT

original cDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGCAAGTAC

altered cDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGCAAGTAC

wildtype AA sequence

MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLRPDTPP SKPVAFEEFK NEQGSEINRI FKENKSILNE
RRKRASETTQ HINAIKREID VTKEALNFQK SLREKQGKYE NKGLMIIDEE EFLLILKLKD
LKKQYRSEYQ DLRDLRAEIQ YCQHLVDQCR HRLLMEFDIW YNESFVIPED MQMALKPGGS
IRPGMVPVNR IVSLGEDDQD KFSQLQQRVL PEGPDSISFY NAKVKIEQKH NYLKTMMGLQ
QAHRK*

mutated AA sequence

MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLRPDTPP SKPVAFEEFK NEQGSEINRI FKENKSILNE
RRKRASETTQ HINAIKREID VTKEALNFQK SLWEKQGKYE NKGLMIIDEE EFLLILKLKD
LKKQYRSEYQ DLRDLRAEIQ YCQHLVDQCR HRLLMEFDIW YNESFVIPED MQMALKPGGS
IRPGMVPVNR IVSLGEDDQD KFSQLQQRVL PEGPDSISFY NAKVKIEQKH NYLKTMMGLQ
QAHRK*

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0280137090596863 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM168171)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:47282303G>AN/A show variant in all transcripts IGV

HGNC symbol

KIF9

Ensembl transcript ID

ENST00000352910

Genbank transcript ID

N/A

UniProt peptide

Q9HAQ2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1438C>T
cDNA.1719C>T
g.42639C>T

AA changes

R480W Score: 101 explain score(s)

position(s) of altered AA
if AA alteration in CDS

480

frameshift

known variant

Reference ID: rs2276853

database	homozygous (A/A)	heterozygous	allele carriers
1000G	802	1201	2003
ExAC	19953	-7139	12814

known disease mutation at this position, please check HGMD for details (HGMD ID CM168171)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.486	0.806
	0.46	0.362
(flanking)	-1.538	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	42631	wt: 0.8929 / mu: 0.8977 (marginal change - not scored)	wt: CCAGAAGTCACTACG mu: CCAGAAGTCACTATG	AGAA\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

480

mutated

not conserved

480

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015476

637

Mmusculus

all identical

ENSMUSG00000032489

638

Ggallus

all identical

ENSGALG00000005517

632

Trubripes

no homologue

Drerio

all identical

ENSDARG00000031693

464

Dmelanogaster

all identical

FBgn0040232

1043

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1704 / 1704

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

568 / 568

position of stopcodon in wt / mu cDNA

1985 / 1985

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

282 / 282

chromosome

strand

-1

last intron/exon boundary

2042

theoretical NMD boundary in CDS

1710

length of CDS

1704

coding sequence (CDS) position

1438

cDNA position
(for ins/del: last normal base / first normal base)

1719

gDNA position
(for ins/del: last normal base / first normal base)

42639

chromosomal position
(for ins/del: last normal base / first normal base)

47282303

original gDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGTAAATGT

altered gDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGTAAATGT

original cDNA sequence snippet

TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGCAAGTAC

altered cDNA sequence snippet

TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGCAAGTAC

wildtype AA sequence

MEFFTMPPRT WFMRQLQRMW FLRPSMAIMV FRMIEERPTH AITVRVSYLE IYNESLFDLL
STLPYVGPSV TPMTIVENPQ GVFIKGLSVH LTSQEEDAFS LLFEGETNRI IASHTMNKNS
SRSHCIFTIY LEAHSRTLSE EKYITSKINL VDLAGSERLG KSGSEGQVLK EATYINKSLS
FLEQAIIALG DQKRDHIPFR QCKLTHALKD SLGGNCNMVL VTNIYGEAAQ LEETLSSLRF
ASRMKLVTTE PAINEKYDAE RMVKNLEKEL ALLKQELAIH DSLTNRTFVT YDPMDEIQIA
EINSQVRRYL EGTLDEIDII SLRQIKEVFN QFRVVLSQQE QEVESTLRRK YTLIDRNDFA
AISAIQKAGL VDVDGHLVGE PEGQNFGLGV APFSTKPGKK AKSKKTFKEP LRPDTPPSKP
VAFEEFKNEQ GSEINRIFKE NKSILNERRK RASETTQHIN AIKREIDVTK EALNFQKSLR
EKQGKYENKG LMIIDEEEFL LILKLKDLKK QYRSEYQDLR DLRAEIQYCQ HLVDQCRHRL
LMGATVGKNL TSGTMSPLSS LRTCRWH*

mutated AA sequence

MEFFTMPPRT WFMRQLQRMW FLRPSMAIMV FRMIEERPTH AITVRVSYLE IYNESLFDLL
STLPYVGPSV TPMTIVENPQ GVFIKGLSVH LTSQEEDAFS LLFEGETNRI IASHTMNKNS
SRSHCIFTIY LEAHSRTLSE EKYITSKINL VDLAGSERLG KSGSEGQVLK EATYINKSLS
FLEQAIIALG DQKRDHIPFR QCKLTHALKD SLGGNCNMVL VTNIYGEAAQ LEETLSSLRF
ASRMKLVTTE PAINEKYDAE RMVKNLEKEL ALLKQELAIH DSLTNRTFVT YDPMDEIQIA
EINSQVRRYL EGTLDEIDII SLRQIKEVFN QFRVVLSQQE QEVESTLRRK YTLIDRNDFA
AISAIQKAGL VDVDGHLVGE PEGQNFGLGV APFSTKPGKK AKSKKTFKEP LRPDTPPSKP
VAFEEFKNEQ GSEINRIFKE NKSILNERRK RASETTQHIN AIKREIDVTK EALNFQKSLW
EKQGKYENKG LMIIDEEEFL LILKLKDLKK QYRSEYQDLR DLRAEIQYCQ HLVDQCRHRL
LMGATVGKNL TSGTMSPLSS LRTCRWH*

speed

0.50 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems