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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000395002
Querying Taster for transcript #2: ENST00000264344
Querying Taster for transcript #3: ENST00000503556
Querying Taster for transcript #4: ENST00000511976
Querying Taster for transcript #5: ENST00000508369
Querying Taster for transcript #6: ENST00000513837
MT speed 5.09 s - this script 5.173502 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FAM13A	polymorphism_automatic	0.00330707150066001	simple_aae		affected		V443I	single base exchange	rs7657817		show file
FAM13A	polymorphism_automatic	0.00330707150066001	simple_aae		affected		V769I	single base exchange	rs7657817		show file
FAM13A	polymorphism_automatic	0.00330707150066001	simple_aae		affected		V429I	single base exchange	rs7657817		show file
FAM13A	polymorphism_automatic	0.00330707150066001	simple_aae		affected		V355I	single base exchange	rs7657817		show file
FAM13A	polymorphism_automatic	0.00330707150066001	simple_aae		affected		V443I	single base exchange	rs7657817		show file
FAM13A	polymorphism_automatic	0.00330707150066001	simple_aae		affected		V415I	single base exchange	rs7657817		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99669292849934 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000395002

Genbank transcript ID

NM_001265579

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1327G>A
cDNA.1684G>A
g.363691G>A

AA changes

V443I Score: 29 explain score(s)

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

443

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

443

mutated

all conserved

443

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

772

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
509	509	CONFLICT	S -> T (in Ref. 2; AK027138).	might get lost (downstream of altered splice site)
655	655	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
666	730	COILED	Potential.	might get lost (downstream of altered splice site)
732	732	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
740	740	CONFLICT	N -> Y (in Ref. 2; BAG59483).	might get lost (downstream of altered splice site)
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2010 / 2010

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

670 / 670

position of stopcodon in wt / mu cDNA

2367 / 2367

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

358 / 358

chromosome

strand

-1

last intron/exon boundary

2241

theoretical NMD boundary in CDS

1833

length of CDS

2010

coding sequence (CDS) position

1327

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

1684

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MACEIMPLQS SQEDERPLSP FYLSAHVPQV SNVSATGELL ERTIRSAVEQ HLFDVNNSGG
QSSEDSESGT LSASSATSAR QRRRQSKEQD EVRHGRDKGL INKENTPSGF NHLDDCILNT
QEVEKVHKNT FGCAGERSKP KRQKSSTKLS ELHDNQDGLV NMESLNSTRS HERTGPDDFE
WMSDERKGNE KDGGHTQHFE SPTMKIQEHP SLSDTKQQRN QDAGDQEESF VSEVPQSDLT
ALCDEKNWEE PIPAFSSWQR ENSDSDEAHL SPQAGRLIRQ LLDEDSDPML SPRFYAYGQS
RQYLDDTEVP PSPPNSHSFM RRRSSSLGSY DDEQEDLTPA QLTRRIQSLK KKIRKFEDRF
EEEKKYRPSH SDKAANPEVL KWTNDLAKFR RQLKESKLKI SEEDLTPRMR QRSNTLPKSF
GSQLEKEDEK KQELVDKAIK PSVEATLESI QRKLQEKRAE SSRPEDIKDM TKDQIANEKV
ALQKALLYYE SIHGRPVTKN ERQVMKPLYD RYRLVKQILS RANTIPIIEE EEGSEDDSNV
KPDFMVTLKT DFSARCFLDQ FEDDADGFIS PMDDKIPSKC SQDTGLSNLH AASIPELLEH
LQEMREEKKR IRKKLRDFED NFFRQNGRNV QKEDRTPMAE EYSEYKHIKA KLRLLEVLIS
KRDTDSKSM*

mutated AA sequence

MACEIMPLQS SQEDERPLSP FYLSAHVPQV SNVSATGELL ERTIRSAVEQ HLFDVNNSGG
QSSEDSESGT LSASSATSAR QRRRQSKEQD EVRHGRDKGL INKENTPSGF NHLDDCILNT
QEVEKVHKNT FGCAGERSKP KRQKSSTKLS ELHDNQDGLV NMESLNSTRS HERTGPDDFE
WMSDERKGNE KDGGHTQHFE SPTMKIQEHP SLSDTKQQRN QDAGDQEESF VSEVPQSDLT
ALCDEKNWEE PIPAFSSWQR ENSDSDEAHL SPQAGRLIRQ LLDEDSDPML SPRFYAYGQS
RQYLDDTEVP PSPPNSHSFM RRRSSSLGSY DDEQEDLTPA QLTRRIQSLK KKIRKFEDRF
EEEKKYRPSH SDKAANPEVL KWTNDLAKFR RQLKESKLKI SEEDLTPRMR QRSNTLPKSF
GSQLEKEDEK KQELVDKAIK PSIEATLESI QRKLQEKRAE SSRPEDIKDM TKDQIANEKV
ALQKALLYYE SIHGRPVTKN ERQVMKPLYD RYRLVKQILS RANTIPIIEE EEGSEDDSNV
KPDFMVTLKT DFSARCFLDQ FEDDADGFIS PMDDKIPSKC SQDTGLSNLH AASIPELLEH
LQEMREEKKR IRKKLRDFED NFFRQNGRNV QKEDRTPMAE EYSEYKHIKA KLRLLEVLIS
KRDTDSKSM*

speed

1.16 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: 0.99669292849934 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000264344

Genbank transcript ID

NM_001265578

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2305G>A
cDNA.2513G>A
g.363691G>A

AA changes

V769I Score: 29 explain score(s)

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

769

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

769

mutated

all conserved

769

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

767

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3072 / 3072

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

1024 / 1024

position of stopcodon in wt / mu cDNA

3280 / 3280

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

209 / 209

chromosome

strand

-1

last intron/exon boundary

3154

theoretical NMD boundary in CDS

2895

length of CDS

3072

coding sequence (CDS) position

2305

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

2513

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MGAGALAICQ SKAAVRLKED MKKIVAVPLN EQKDFTYQKL FGVSLQELER QGLTENGIPA
VVWNIVEYLT QHGLTQEGLF RVNGNVKVVE QLRLKFESGV PVELGKDGDV CSAASLLKLF
LRELPDSLIT SALQPRFIQL FQDGRNDVQE SSLRDLIKEL PDTHYCLLKY LCQFLTKVAK
HHVQNRMNVH NLATVFGPNC FHVPPGLEGM KEQDLCNKIM AKILENYNTL FEVEYTENDH
LRCENLARLI IVKEVYYKNS LPILLTRGLE RDMPKPPPKT KIPKSRSEGS IQAHRVLQPE
LSDGIPQLSL RLSYRKACLE DMNSAEGAIS AKLVPSSQED ERPLSPFYLS AHVPQVSNVS
ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS SATSARQRRR QSKEQDEVRH
GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA GERSKPKRQK SSTKLSELHD
NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG HTQHFESPTM KIQEHPSLSD
TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA FSSWQRENSD SDEAHLSPQA
GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP NSHSFMRRRS SSLGSYDDEQ
EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA ANPEVLKWTN DLAKFRRQLK
ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL VDKAIKPSVE ATLESIQRKL
QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG RPVTKNERQV MKPLYDRYRL
VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE IKEEEEGSED DSNVKPDFMV
TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL SNLHAASIPE LLEHLQEMRE
EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK HIKAKLRLLE VLISKRDTDS
KSM*

mutated AA sequence

MGAGALAICQ SKAAVRLKED MKKIVAVPLN EQKDFTYQKL FGVSLQELER QGLTENGIPA
VVWNIVEYLT QHGLTQEGLF RVNGNVKVVE QLRLKFESGV PVELGKDGDV CSAASLLKLF
LRELPDSLIT SALQPRFIQL FQDGRNDVQE SSLRDLIKEL PDTHYCLLKY LCQFLTKVAK
HHVQNRMNVH NLATVFGPNC FHVPPGLEGM KEQDLCNKIM AKILENYNTL FEVEYTENDH
LRCENLARLI IVKEVYYKNS LPILLTRGLE RDMPKPPPKT KIPKSRSEGS IQAHRVLQPE
LSDGIPQLSL RLSYRKACLE DMNSAEGAIS AKLVPSSQED ERPLSPFYLS AHVPQVSNVS
ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS SATSARQRRR QSKEQDEVRH
GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA GERSKPKRQK SSTKLSELHD
NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG HTQHFESPTM KIQEHPSLSD
TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA FSSWQRENSD SDEAHLSPQA
GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP NSHSFMRRRS SSLGSYDDEQ
EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA ANPEVLKWTN DLAKFRRQLK
ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL VDKAIKPSIE ATLESIQRKL
QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG RPVTKNERQV MKPLYDRYRL
VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE IKEEEEGSED DSNVKPDFMV
TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL SNLHAASIPE LLEHLQEMRE
EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK HIKAKLRLLE VLISKRDTDS
KSM*

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99669292849934 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000503556

Genbank transcript ID

N/A

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1285G>A
cDNA.1512G>A
g.363691G>A

AA changes

V429I Score: 29 explain score(s)

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

429

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

429

mutated

all conserved

429

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

772

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
509	509	CONFLICT	S -> T (in Ref. 2; AK027138).	might get lost (downstream of altered splice site)
655	655	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
666	730	COILED	Potential.	might get lost (downstream of altered splice site)
732	732	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
740	740	CONFLICT	N -> Y (in Ref. 2; BAG59483).	might get lost (downstream of altered splice site)
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2052 / 2052

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

684 / 684

position of stopcodon in wt / mu cDNA

2279 / 2279

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

228 / 228

chromosome

strand

-1

last intron/exon boundary

2153

theoretical NMD boundary in CDS

1875

length of CDS

2052

coding sequence (CDS) position

1285

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

1512

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MACEIMPLQS AHVPQVSNVS ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS
SATSARQRRR QSKEQDEVRH GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA
GERSKPKRQK SSTKLSELHD NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG
HTQHFESPTM KIQEHPSLSD TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA
FSSWQRENSD SDEAHLSPQA GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP
NSHSFMRRRS SSLGSYDDEQ EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA
ANPEVLKWTN DLAKFRRQLK ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL
VDKAIKPSVE ATLESIQRKL QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG
RPVTKNERQV MKPLYDRYRL VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE
IKEEEEGSED DSNVKPDFMV TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL
SNLHAASIPE LLEHLQEMRE EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK
HIKAKLRLLE VLISKRDTDS KSM*

mutated AA sequence

MACEIMPLQS AHVPQVSNVS ATGELLERTI RSAVEQHLFD VNNSGGQSSE DSESGTLSAS
SATSARQRRR QSKEQDEVRH GRDKGLINKE NTPSGFNHLD DCILNTQEVE KVHKNTFGCA
GERSKPKRQK SSTKLSELHD NQDGLVNMES LNSTRSHERT GPDDFEWMSD ERKGNEKDGG
HTQHFESPTM KIQEHPSLSD TKQQRNQDAG DQEESFVSEV PQSDLTALCD EKNWEEPIPA
FSSWQRENSD SDEAHLSPQA GRLIRQLLDE DSDPMLSPRF YAYGQSRQYL DDTEVPPSPP
NSHSFMRRRS SSLGSYDDEQ EDLTPAQLTR RIQSLKKKIR KFEDRFEEEK KYRPSHSDKA
ANPEVLKWTN DLAKFRRQLK ESKLKISEED LTPRMRQRSN TLPKSFGSQL EKEDEKKQEL
VDKAIKPSIE ATLESIQRKL QEKRAESSRP EDIKDMTKDQ IANEKVALQK ALLYYESIHG
RPVTKNERQV MKPLYDRYRL VKQILSRANT IPIIGSPSSK RRSPLLQPII EGETASFFKE
IKEEEEGSED DSNVKPDFMV TLKTDFSARC FLDQFEDDAD GFISPMDDKI PSKCSQDTGL
SNLHAASIPE LLEHLQEMRE EKKRIRKKLR DFEDNFFRQN GRNVQKEDRT PMAEEYSEYK
HIKAKLRLLE VLISKRDTDS KSM*

speed

1.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99669292849934 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000511976

Genbank transcript ID

N/A

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1063G>A
cDNA.1708G>A
g.363691G>A

AA changes

V355I Score: 29 explain score(s)

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

355

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

355

mutated

all conserved

355

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

769

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
509	509	CONFLICT	S -> T (in Ref. 2; AK027138).	might get lost (downstream of altered splice site)
655	655	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
666	730	COILED	Potential.	might get lost (downstream of altered splice site)
732	732	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
740	740	CONFLICT	N -> Y (in Ref. 2; BAG59483).	might get lost (downstream of altered splice site)
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1830 / 1830

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

610 / 610

position of stopcodon in wt / mu cDNA

2475 / 2475

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

646 / 646

chromosome

strand

-1

last intron/exon boundary

2349

theoretical NMD boundary in CDS

1653

length of CDS

1830

coding sequence (CDS) position

1063

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

1708

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MKEQDLCNKI MAKILENYNT LFEVEYTEND HLRCENLARL IIVKEVYYKN SLPILLTRGL
ERDMPKPPPK TKNMESLNST RSHERTGPDD FEWMSDERKG NEKDGGHTQH FESPTMKIQE
HPSLSDTKQQ RNQDAGDQEE SFVSEVPQSD LTALCDEKNW EEPIPAFSSW QRENSDSDEA
HLSPQAGRLI RQLLDEDSDP MLSPRFYAYG QSRQYLDDTE VPPSPPNSHS FMRRRSSSLG
SYDDEQEDLT PAQLTRRIQS LKKKIRKFED RFEEEKKYRP SHSDKAANPE VLKWTNDLAK
FRRQLKESKL KISEEDLTPR MRQRSNTLPK SFGSQLEKED EKKQELVDKA IKPSVEATLE
SIQRKLQEKR AESSRPEDIK DMTKDQIANE KVALQKALLY YESIHGRPVT KNERQVMKPL
YDRYRLVKQI LSRANTIPII GSPSSKRRSP LLQPIIEGET ASFFKEIKEE EEGSEDDSNV
KPDFMVTLKT DFSARCFLDQ FEDDADGFIS PMDDKIPSKC SQDTGLSNLH AASIPELLEH
LQEMREEKKR IRKKLRDFED NFFRQNGRNV QKEDRTPMAE EYSEYKHIKA KLRLLEVLIS
KRDTDSKSM*

mutated AA sequence

MKEQDLCNKI MAKILENYNT LFEVEYTEND HLRCENLARL IIVKEVYYKN SLPILLTRGL
ERDMPKPPPK TKNMESLNST RSHERTGPDD FEWMSDERKG NEKDGGHTQH FESPTMKIQE
HPSLSDTKQQ RNQDAGDQEE SFVSEVPQSD LTALCDEKNW EEPIPAFSSW QRENSDSDEA
HLSPQAGRLI RQLLDEDSDP MLSPRFYAYG QSRQYLDDTE VPPSPPNSHS FMRRRSSSLG
SYDDEQEDLT PAQLTRRIQS LKKKIRKFED RFEEEKKYRP SHSDKAANPE VLKWTNDLAK
FRRQLKESKL KISEEDLTPR MRQRSNTLPK SFGSQLEKED EKKQELVDKA IKPSIEATLE
SIQRKLQEKR AESSRPEDIK DMTKDQIANE KVALQKALLY YESIHGRPVT KNERQVMKPL
YDRYRLVKQI LSRANTIPII GSPSSKRRSP LLQPIIEGET ASFFKEIKEE EEGSEDDSNV
KPDFMVTLKT DFSARCFLDQ FEDDADGFIS PMDDKIPSKC SQDTGLSNLH AASIPELLEH
LQEMREEKKR IRKKLRDFED NFFRQNGRNV QKEDRTPMAE EYSEYKHIKA KLRLLEVLIS
KRDTDSKSM*

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99669292849934 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000508369

Genbank transcript ID

NM_001015045

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1327G>A
cDNA.1524G>A
g.363691G>A

AA changes

V443I Score: 29 explain score(s)

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

443

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

443

mutated

all conserved

443

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

772

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
509	509	CONFLICT	S -> T (in Ref. 2; AK027138).	might get lost (downstream of altered splice site)
655	655	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
666	730	COILED	Potential.	might get lost (downstream of altered splice site)
732	732	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
740	740	CONFLICT	N -> Y (in Ref. 2; BAG59483).	might get lost (downstream of altered splice site)
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2094 / 2094

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

698 / 698

position of stopcodon in wt / mu cDNA

2291 / 2291

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

198 / 198

chromosome

strand

-1

last intron/exon boundary

2165

theoretical NMD boundary in CDS

1917

length of CDS

2094

coding sequence (CDS) position

1327

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

1524

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MACEIMPLQS SQEDERPLSP FYLSAHVPQV SNVSATGELL ERTIRSAVEQ HLFDVNNSGG
QSSEDSESGT LSASSATSAR QRRRQSKEQD EVRHGRDKGL INKENTPSGF NHLDDCILNT
QEVEKVHKNT FGCAGERSKP KRQKSSTKLS ELHDNQDGLV NMESLNSTRS HERTGPDDFE
WMSDERKGNE KDGGHTQHFE SPTMKIQEHP SLSDTKQQRN QDAGDQEESF VSEVPQSDLT
ALCDEKNWEE PIPAFSSWQR ENSDSDEAHL SPQAGRLIRQ LLDEDSDPML SPRFYAYGQS
RQYLDDTEVP PSPPNSHSFM RRRSSSLGSY DDEQEDLTPA QLTRRIQSLK KKIRKFEDRF
EEEKKYRPSH SDKAANPEVL KWTNDLAKFR RQLKESKLKI SEEDLTPRMR QRSNTLPKSF
GSQLEKEDEK KQELVDKAIK PSVEATLESI QRKLQEKRAE SSRPEDIKDM TKDQIANEKV
ALQKALLYYE SIHGRPVTKN ERQVMKPLYD RYRLVKQILS RANTIPIIGS PSSKRRSPLL
QPIIEGETAS FFKEIKEEEE GSEDDSNVKP DFMVTLKTDF SARCFLDQFE DDADGFISPM
DDKIPSKCSQ DTGLSNLHAA SIPELLEHLQ EMREEKKRIR KKLRDFEDNF FRQNGRNVQK
EDRTPMAEEY SEYKHIKAKL RLLEVLISKR DTDSKSM*

mutated AA sequence

MACEIMPLQS SQEDERPLSP FYLSAHVPQV SNVSATGELL ERTIRSAVEQ HLFDVNNSGG
QSSEDSESGT LSASSATSAR QRRRQSKEQD EVRHGRDKGL INKENTPSGF NHLDDCILNT
QEVEKVHKNT FGCAGERSKP KRQKSSTKLS ELHDNQDGLV NMESLNSTRS HERTGPDDFE
WMSDERKGNE KDGGHTQHFE SPTMKIQEHP SLSDTKQQRN QDAGDQEESF VSEVPQSDLT
ALCDEKNWEE PIPAFSSWQR ENSDSDEAHL SPQAGRLIRQ LLDEDSDPML SPRFYAYGQS
RQYLDDTEVP PSPPNSHSFM RRRSSSLGSY DDEQEDLTPA QLTRRIQSLK KKIRKFEDRF
EEEKKYRPSH SDKAANPEVL KWTNDLAKFR RQLKESKLKI SEEDLTPRMR QRSNTLPKSF
GSQLEKEDEK KQELVDKAIK PSIEATLESI QRKLQEKRAE SSRPEDIKDM TKDQIANEKV
ALQKALLYYE SIHGRPVTKN ERQVMKPLYD RYRLVKQILS RANTIPIIGS PSSKRRSPLL
QPIIEGETAS FFKEIKEEEE GSEDDSNVKP DFMVTLKTDF SARCFLDQFE DDADGFISPM
DDKIPSKCSQ DTGLSNLHAA SIPELLEHLQ EMREEKKRIR KKLRDFEDNF FRQNGRNVQK
EDRTPMAEEY SEYKHIKAKL RLLEVLISKR DTDSKSM*

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99669292849934 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:89668859C>TN/A show variant in all transcripts IGV

HGNC symbol

FAM13A

Ensembl transcript ID

ENST00000513837

Genbank transcript ID

N/A

UniProt peptide

O94988

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1243G>A
cDNA.1469G>A
g.363691G>A

AA changes

V415I Score: 29 explain score(s)

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

415

frameshift

known variant

Reference ID: rs7657817

database	homozygous (T/T)	heterozygous	allele carriers
1000G	225	955	1180
ExAC	3223	19378	22601

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.011	0.283
	1.654	0.265
(flanking)	-1.95	0.001

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	363683	wt: 0.9949 / mu: 0.9965 (marginal change - not scored)	wt: AATAAAGCCCAGTGT mu: AATAAAGCCCAGTAT	TAAA\|gccc
Donor marginally increased	363688	wt: 0.7050 / mu: 0.7418 (marginal change - not scored)	wt: AGCCCAGTGTTGAAG mu: AGCCCAGTATTGAAG	CCCA\|gtgt
Donor increased	363691	wt: 0.68 / mu: 0.96	wt: CCAGTGTTGAAGCCA mu: CCAGTATTGAAGCCA	AGTG\|ttga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

415

mutated

all conserved

415

Ptroglodytes

all identical

ENSPTRG00000016278

769

Mmulatta

all identical

ENSMMUG00000010141

760

Fcatus

all identical

ENSFCAG00000015497

768

Mmusculus

all identical

ENSMUSG00000037709

439

Ggallus

all identical

ENSGALG00000010371

777

Trubripes

not conserved

ENSTRUG00000012811

772

Drerio

all identical

ENSDARG00000075564

814

Dmelanogaster

all conserved

FBgn0028494

565

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000023661

768

protein features

start (aa)	end (aa)	feature	details
509	509	CONFLICT	S -> T (in Ref. 2; AK027138).	might get lost (downstream of altered splice site)
655	655	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
666	730	COILED	Potential.	might get lost (downstream of altered splice site)
732	732	MOD_RES	Phosphothreonine (By similarity).	might get lost (downstream of altered splice site)
740	740	CONFLICT	N -> Y (in Ref. 2; BAG59483).	might get lost (downstream of altered splice site)
946	978	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2010 / 2010

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

670 / 670

position of stopcodon in wt / mu cDNA

2236 / 2236

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

227 / 227

chromosome

strand

-1

last intron/exon boundary

2110

theoretical NMD boundary in CDS

1833

length of CDS

2010

coding sequence (CDS) position

1243

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

1469

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

363691

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

89668859

original gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered gDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

original cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTGTTGAAGCCACATTGGAATCT

altered cDNA sequence snippet

ATAAAGCAATAAAGCCCAGTATTGAAGCCACATTGGAATCT

wildtype AA sequence

MACEIMPLQR LLERTIRSAV EQHLFDVNNS GGQSSEDSES GTLSASSATS ARQRRRQSKE
QDEVRHGRDK GLINKENTPS GFNHLDDCIL NTQEVEKVHK NTFGCAGERS KPKRQKSSTK
LSELHDNQDG LVNMESLNST RSHERTGPDD FEWMSDERKG NEKDGGHTQH FESPTMKIQE
HPSLSDTKQQ RNQDAGDQEE SFVSEVPQSD LTALCDEKNW EEPIPAFSSW QRENSDSDEA
HLSPQAGRLI RQLLDEDSDP MLSPRFYAYG QSRQYLDDTE VPPSPPNSHS FMRRRSSSLG
SYDDEQEDLT PAQLTRRIQS LKKKIRKFED RFEEEKKYRP SHSDKAANPE VLKWTNDLAK
FRRQLKESKL KISEEDLTPR MRQRSNTLPK SFGSQLEKED EKKQELVDKA IKPSVEATLE
SIQRKLQEKR AESSRPEDIK DMTKDQIANE KVALQKALLY YESIHGRPVT KNERQVMKPL
YDRYRLVKQI LSRANTIPII GSPSSKRRSP LLQPIIEGET ASFFKEIKEE EEGSEDDSNV
KPDFMVTLKT DFSARCFLDQ FEDDADGFIS PMDDKIPSKC SQDTGLSNLH AASIPELLEH
LQEMREEKKR IRKKLRDFED NFFRQNGRNV QKEDRTPMAE EYSEYKHIKA KLRLLEVLIS
KRDTDSKSM*

mutated AA sequence

MACEIMPLQR LLERTIRSAV EQHLFDVNNS GGQSSEDSES GTLSASSATS ARQRRRQSKE
QDEVRHGRDK GLINKENTPS GFNHLDDCIL NTQEVEKVHK NTFGCAGERS KPKRQKSSTK
LSELHDNQDG LVNMESLNST RSHERTGPDD FEWMSDERKG NEKDGGHTQH FESPTMKIQE
HPSLSDTKQQ RNQDAGDQEE SFVSEVPQSD LTALCDEKNW EEPIPAFSSW QRENSDSDEA
HLSPQAGRLI RQLLDEDSDP MLSPRFYAYG QSRQYLDDTE VPPSPPNSHS FMRRRSSSLG
SYDDEQEDLT PAQLTRRIQS LKKKIRKFED RFEEEKKYRP SHSDKAANPE VLKWTNDLAK
FRRQLKESKL KISEEDLTPR MRQRSNTLPK SFGSQLEKED EKKQELVDKA IKPSIEATLE
SIQRKLQEKR AESSRPEDIK DMTKDQIANE KVALQKALLY YESIHGRPVT KNERQVMKPL
YDRYRLVKQI LSRANTIPII GSPSSKRRSP LLQPIIEGET ASFFKEIKEE EEGSEDDSNV
KPDFMVTLKT DFSARCFLDQ FEDDADGFIS PMDDKIPSKC SQDTGLSNLH AASIPELLEH
LQEMREEKKR IRKKLRDFED NFFRQNGRNV QKEDRTPMAE EYSEYKHIKA KLRLLEVLIS
KRDTDSKSM*

speed

0.40 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

mutation t@sting

Prediction

polymorphism

Problems