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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000397256
Querying Taster for transcript #2: ENST00000426895
Querying Taster for transcript #3: ENST00000383827
Querying Taster for transcript #4: ENST00000455274
Querying Taster for transcript #5: ENST00000430793
Querying Taster for transcript #6: ENST00000547186
Querying Taster for transcript #7: ENST00000397241
Querying Taster for transcript #8: ENST00000427853
MT speed 0 s - this script 6.706188 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ARPC4-TTLL3	polymorphism_automatic	2.17511170186313e-08	simple_aae		affected		M563R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	2.17511170186313e-08	simple_aae		affected		M645R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	3.61198689846631e-08	simple_aae		affected		M290R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	3.61198689846631e-08	simple_aae		affected		M290R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	3.61198689846631e-08	simple_aae		affected		M502R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	3.61198689846631e-08	simple_aae		affected		M290R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	3.61198689846631e-08	simple_aae		affected		M290R	single base exchange	rs2290305		show file
TTLL3	polymorphism_automatic	3.61198689846631e-08	simple_aae		affected		M290R	single base exchange	rs2290305		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999978248883 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

ARPC4-TTLL3

Ensembl transcript ID

ENST00000397256

Genbank transcript ID

NM_001198793

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1688T>G
cDNA.1696T>G
g.36233T>G

AA changes

M563R Score: 91 explain score(s)

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

563

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	36226	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	36227	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

563

mutated

not conserved

563

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1878 / 1878

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

626 / 626

position of stopcodon in wt / mu cDNA

1886 / 1886

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

9 / 9

chromosome

strand

last intron/exon boundary

1746

theoretical NMD boundary in CDS

1687

length of CDS

1878

coding sequence (CDS) position

1688

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

1696

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

36233

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

MTATLRPYLS AVRATLQAAL CLENFSSQVV ERHNKPEVEV RSSKELLLQP VTISRNEKEK
VLIEGSINSV RVSIAVKQAD EIEKILCHKF MRFMMMRAEN FFILRRKPVE QKKIFTIQGC
YPVIRCLLRR RGWVEKKMVH RSGPTLLPPQ KDLDSSAMGD SDTTEDEDED EDEEFQPSQL
FDFDDLLKFD DLDGTHALMV GLCLNLRNLP WFDEVDANSF FPRCYCLGAE DDKKAFIGDK
QPKKQEKNPV LVSPEFVDEA LCACEEYLSN LAHMDIDKDL EAPLYLTPEG WSLFLQRYYQ
VVHEGAELRH LDTQVQRCED ILQQLQAVVP QIDMEGDRNI WIVKPGAKSR GRGIMCMDHL
EEMLKLVNGN PVVMKDGKWV VQKYIERPLL IFGTKFDLRQ WFLVTDWNPL TVWFYRDSYI
RFSTQPFSLK NLDNSVHLCN NSIQKHLENS CHRHPLLPPD NMWSSQRFQA HLQEMGAPNA
WSTIIVPGMK DAVIHALQTS QDTVQCRKAS FELYGADFVF GEDFQPWLIE INASPTMAPS
TAVTARLCAG VQADTLRVVI DRMLDRNCDT GAFELIYKQP VTTSPASTPR PSCLLPMYSD
TRARSSDDST ASWWALRPCR PQARP*

mutated AA sequence

MTATLRPYLS AVRATLQAAL CLENFSSQVV ERHNKPEVEV RSSKELLLQP VTISRNEKEK
VLIEGSINSV RVSIAVKQAD EIEKILCHKF MRFMMMRAEN FFILRRKPVE QKKIFTIQGC
YPVIRCLLRR RGWVEKKMVH RSGPTLLPPQ KDLDSSAMGD SDTTEDEDED EDEEFQPSQL
FDFDDLLKFD DLDGTHALMV GLCLNLRNLP WFDEVDANSF FPRCYCLGAE DDKKAFIGDK
QPKKQEKNPV LVSPEFVDEA LCACEEYLSN LAHMDIDKDL EAPLYLTPEG WSLFLQRYYQ
VVHEGAELRH LDTQVQRCED ILQQLQAVVP QIDMEGDRNI WIVKPGAKSR GRGIMCMDHL
EEMLKLVNGN PVVMKDGKWV VQKYIERPLL IFGTKFDLRQ WFLVTDWNPL TVWFYRDSYI
RFSTQPFSLK NLDNSVHLCN NSIQKHLENS CHRHPLLPPD NMWSSQRFQA HLQEMGAPNA
WSTIIVPGMK DAVIHALQTS QDTVQCRKAS FELYGADFVF GEDFQPWLIE INASPTMAPS
TAVTARLCAG VQADTLRVVI DRRLDRNCDT GAFELIYKQP VTTSPASTPR PSCLLPMYSD
TRARSSDDST ASWWALRPCR PQARP*

speed

0.92 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: 0.999999978248883 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000426895

Genbank transcript ID

NM_001025930

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1934T>G
cDNA.1953T>G
g.21261T>G

AA changes

M645R Score: 91 explain score(s)

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

645

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

645

mutated

not conserved

645

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2748 / 2748

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

916 / 916

position of stopcodon in wt / mu cDNA

2767 / 2767

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

20 / 20

chromosome

strand

last intron/exon boundary

2372

theoretical NMD boundary in CDS

2302

length of CDS

2748

coding sequence (CDS) position

1934

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

1953

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

MQGPDAPLLL SARELGPGRR GSASWYRQEG GAVCNWLRKP QPLEPRTSFP SARRSEFRPP
RRLPWAGPAS AQSEEGHAGG RCQAGSPAPA RRLSGAFKTL VPGTHAQGAS DTHPLGPPHT
PVLDPSPQDG FPVLWRGSSK ASHMNRLRNA KIYVERAVKQ KKIFTIQGCY PVIRCLLRRR
GWVEKKMVHR SGPTLLPPQK DLDSSAMGDS DTTEDEDEDE DEEFQPSQLF DFDDLLKFDD
LDGTHALMVG LCLNLRNLPW FDEVDANSFF PRCYCLGAED DKKAFIEDFW LTAARNVLKL
VVKSEWKSYP IQAVEEEASG DKQPKKQEKN PVLVSPEFVD EALCACEEYL SNLAHMDIDK
DLEAPLYLTP EGWSLFLQRY YQVVHEGAEL RHLDTQVQRC EDILQQLQAV VPQIDMEGDR
NIWIVKPGAK SRGRGIMCMD HLEEMLKLVN GNPVVMKDGK WVVQKYIERP LLIFGTKFDL
RQWFLVTDWN PLTVWFYRDS YIRFSTQPFS LKNLDNSVHL CNNSIQKHLE NSCHRHPLLP
PDNMWSSQRF QAHLQEMGAP NAWSTIIVPG MKDAVIHALQ TSQDTVQCRK ASFELYGADF
VFGEDFQPWL IEINASPTMA PSTAVTARLC AGVQADTLRV VIDRMLDRNC DTGAFELIYK
QPAVEVPQYV GIRLLVEGFT IKKPMAMCHR RMGVRPAVPL LTQRGSGEAR HHFPSLHTKA
QLPSPHVLRH QGQVLRRQHS KLVGTKALST TGKALRTLPT AKVFISLPPN LDFKVAPSIL
KPRKAPALLC LRGPQLEVPC CLCPLKSEQF LAPVGRSRPK ANSRPDCDKP RAEACPMKRL
SPLKPLPLVG TFQRRRGLGD MKLGKPLLRF PTALVLDPTP NKKKQVKYLG LDSIAVGGSR
VDGARPCTPG STARA*

mutated AA sequence

MQGPDAPLLL SARELGPGRR GSASWYRQEG GAVCNWLRKP QPLEPRTSFP SARRSEFRPP
RRLPWAGPAS AQSEEGHAGG RCQAGSPAPA RRLSGAFKTL VPGTHAQGAS DTHPLGPPHT
PVLDPSPQDG FPVLWRGSSK ASHMNRLRNA KIYVERAVKQ KKIFTIQGCY PVIRCLLRRR
GWVEKKMVHR SGPTLLPPQK DLDSSAMGDS DTTEDEDEDE DEEFQPSQLF DFDDLLKFDD
LDGTHALMVG LCLNLRNLPW FDEVDANSFF PRCYCLGAED DKKAFIEDFW LTAARNVLKL
VVKSEWKSYP IQAVEEEASG DKQPKKQEKN PVLVSPEFVD EALCACEEYL SNLAHMDIDK
DLEAPLYLTP EGWSLFLQRY YQVVHEGAEL RHLDTQVQRC EDILQQLQAV VPQIDMEGDR
NIWIVKPGAK SRGRGIMCMD HLEEMLKLVN GNPVVMKDGK WVVQKYIERP LLIFGTKFDL
RQWFLVTDWN PLTVWFYRDS YIRFSTQPFS LKNLDNSVHL CNNSIQKHLE NSCHRHPLLP
PDNMWSSQRF QAHLQEMGAP NAWSTIIVPG MKDAVIHALQ TSQDTVQCRK ASFELYGADF
VFGEDFQPWL IEINASPTMA PSTAVTARLC AGVQADTLRV VIDRRLDRNC DTGAFELIYK
QPAVEVPQYV GIRLLVEGFT IKKPMAMCHR RMGVRPAVPL LTQRGSGEAR HHFPSLHTKA
QLPSPHVLRH QGQVLRRQHS KLVGTKALST TGKALRTLPT AKVFISLPPN LDFKVAPSIL
KPRKAPALLC LRGPQLEVPC CLCPLKSEQF LAPVGRSRPK ANSRPDCDKP RAEACPMKRL
SPLKPLPLVG TFQRRRGLGD MKLGKPLLRF PTALVLDPTP NKKKQVKYLG LDSIAVGGSR
VDGARPCTPG STARA*

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999963880131 (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)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000383827

Genbank transcript ID

N/A

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869T>G
cDNA.3150T>G
g.21261T>G

AA changes

M290R Score: 91 explain score(s)

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

290

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

not conserved

290

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

start (aa)	end (aa)	feature	details
151	510	DOMAIN	TTL.	lost
469	469	MUTAGEN	E->G: Abolishes monoglycylase activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1059 / 1059

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

353 / 353

position of stopcodon in wt / mu cDNA

3340 / 3340

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

2282 / 2282

chromosome

strand

last intron/exon boundary

3200

theoretical NMD boundary in CDS

868

length of CDS

1059

coding sequence (CDS) position

869

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

3150

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRM LDRNCDTGAF
ELIYKQPVTT SPASTPRPSC LLPMYSDTRA RSSDDSTASW WALRPCRPQA RP*

mutated AA sequence

MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRR LDRNCDTGAF
ELIYKQPVTT SPASTPRPSC LLPMYSDTRA RSSDDSTASW WALRPCRPQA RP*

speed

0.73 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999963880131 (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)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000455274

Genbank transcript ID

N/A

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869T>G
cDNA.2219T>G
g.21261T>G

AA changes

M290R Score: 91 explain score(s)

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

290

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

not conserved

290

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

start (aa)	end (aa)	feature	details
151	510	DOMAIN	TTL.	lost
469	469	MUTAGEN	E->G: Abolishes monoglycylase activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

981 / 981

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

327 / 327

position of stopcodon in wt / mu cDNA

2331 / 2331

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

1351 / 1351

chromosome

strand

last intron/exon boundary

2269

theoretical NMD boundary in CDS

868

length of CDS

981

coding sequence (CDS) position

869

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

2219

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

mutated AA sequence

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999963880131 (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)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000547186

Genbank transcript ID

N/A

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1505T>G
cDNA.1721T>G
g.21261T>G

AA changes

M502R Score: 91 explain score(s)

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

502

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

502

mutated

not conserved

502

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

start (aa)	end (aa)	feature	details
151	510	DOMAIN	TTL.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2319 / 2319

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

773 / 773

position of stopcodon in wt / mu cDNA

2535 / 2535

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

217 / 217

chromosome

strand

last intron/exon boundary

2140

theoretical NMD boundary in CDS

1873

length of CDS

2319

coding sequence (CDS) position

1505

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

1721

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

MNRLRNAKIY VERAVKQKKI FTIQGCYPVI RCLLRRRGWV EKKMVHRSGP TLLPPQKDLD
SSAMGDSDTT EDEDEDEDEE FQPSQLFDFD DLLKFDDLDG THALMVGLCL NLRNLPWFDE
VDANSFFPRC YCLGAEDDKK AFIEDFWLTA ARNVLKLVVK SEWKSYPIQA VEEEASGDKQ
PKKQEKNPVL VSPEFVDEAL CACEEYLSNL AHMDIDKDLE APLYLTPEGW SLFLQRYYQV
VHEGAELRHL DTQVQRCEDI LQQLQAVVPQ IDMEGDRNIW IVKPGAKSRG RGIMCMDHLE
EMLKLVNGNP VVMKDGKWVV QKYIERPLLI FGTKFDLRQW FLVTDWNPLT VWFYRDSYIR
FSTQPFSLKN LDNSVHLCNN SIQKHLENSC HRHPLLPPDN MWSSQRFQAH LQEMGAPNAW
STIIVPGMKD AVIHALQTSQ DTVQCRKASF ELYGADFVFG EDFQPWLIEI NASPTMAPST
AVTARLCAGV QADTLRVVID RMLDRNCDTG AFELIYKQPA VEVPQYVGIR LLVEGFTIKK
PMAMCHRRMG VRPAVPLLTQ RGSGEARHHF PSLHTKAQLP SPHVLRHQGQ VLRRQHSKLV
GTKALSTTGK ALRTLPTAKV FISLPPNLDF KVAPSILKPR KAPALLCLRG PQLEVPCCLC
PLKSEQFLAP VGRSRPKANS RPDCDKPRAE ACPMKRLSPL KPLPLVGTFQ RRRGLGDMKL
GKPLLRFPTA LVLDPTPNKK KQVKYLGLDS IAVGGSRVDG ARPCTPGSTA RA*

mutated AA sequence

MNRLRNAKIY VERAVKQKKI FTIQGCYPVI RCLLRRRGWV EKKMVHRSGP TLLPPQKDLD
SSAMGDSDTT EDEDEDEDEE FQPSQLFDFD DLLKFDDLDG THALMVGLCL NLRNLPWFDE
VDANSFFPRC YCLGAEDDKK AFIEDFWLTA ARNVLKLVVK SEWKSYPIQA VEEEASGDKQ
PKKQEKNPVL VSPEFVDEAL CACEEYLSNL AHMDIDKDLE APLYLTPEGW SLFLQRYYQV
VHEGAELRHL DTQVQRCEDI LQQLQAVVPQ IDMEGDRNIW IVKPGAKSRG RGIMCMDHLE
EMLKLVNGNP VVMKDGKWVV QKYIERPLLI FGTKFDLRQW FLVTDWNPLT VWFYRDSYIR
FSTQPFSLKN LDNSVHLCNN SIQKHLENSC HRHPLLPPDN MWSSQRFQAH LQEMGAPNAW
STIIVPGMKD AVIHALQTSQ DTVQCRKASF ELYGADFVFG EDFQPWLIEI NASPTMAPST
AVTARLCAGV QADTLRVVID RRLDRNCDTG AFELIYKQPA VEVPQYVGIR LLVEGFTIKK
PMAMCHRRMG VRPAVPLLTQ RGSGEARHHF PSLHTKAQLP SPHVLRHQGQ VLRRQHSKLV
GTKALSTTGK ALRTLPTAKV FISLPPNLDF KVAPSILKPR KAPALLCLRG PQLEVPCCLC
PLKSEQFLAP VGRSRPKANS RPDCDKPRAE ACPMKRLSPL KPLPLVGTFQ RRRGLGDMKL
GKPLLRFPTA LVLDPTPNKK KQVKYLGLDS IAVGGSRVDG ARPCTPGSTA RA*

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999963880131 (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)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000430793

Genbank transcript ID

N/A

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869T>G
cDNA.1228T>G
g.21261T>G

AA changes

M290R Score: 91 explain score(s)

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

290

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

not conserved

290

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

start (aa)	end (aa)	feature	details
151	510	DOMAIN	TTL.	lost
469	469	MUTAGEN	E->G: Abolishes monoglycylase activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1305 / 1305

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

435 / 435

position of stopcodon in wt / mu cDNA

1664 / 1664

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

360 / 360

chromosome

strand

last intron/exon boundary

1420

theoretical NMD boundary in CDS

1010

length of CDS

1305

coding sequence (CDS) position

869

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

1228

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRM LDRNCDTGAF
ELIYKQPAVE VPQYVGIRLL VEGFTIKKPM AMCHRRMGVR PAVPLLTQRG SGEARHHFPS
LHTKAQLPSP HVLRHQGQVL RRQHSKLVGT KALSTTGKAL RTLPTAKVFI SLPPNLDFKV
APSILKPRKV GLDL*

mutated AA sequence

MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRR LDRNCDTGAF
ELIYKQPAVE VPQYVGIRLL VEGFTIKKPM AMCHRRMGVR PAVPLLTQRG SGEARHHFPS
LHTKAQLPSP HVLRHQGQVL RRQHSKLVGT KALSTTGKAL RTLPTAKVFI SLPPNLDFKV
APSILKPRKV GLDL*

speed

0.97 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999963880131 (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)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000397241

Genbank transcript ID

N/A

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869T>G
cDNA.1721T>G
g.21261T>G

AA changes

M290R Score: 91 explain score(s)

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

290

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

not conserved

290

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

start (aa)	end (aa)	feature	details
151	510	DOMAIN	TTL.	lost
469	469	MUTAGEN	E->G: Abolishes monoglycylase activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1059 / 1059

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

353 / 353

position of stopcodon in wt / mu cDNA

1911 / 1911

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

853 / 853

chromosome

strand

last intron/exon boundary

1998

theoretical NMD boundary in CDS

1095

length of CDS

1059

coding sequence (CDS) position

869

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

1721

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

mutated AA sequence

MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRR LDRNCDTGAF
ELIYKQPVTT SPASTPRPSC LLPMYSDTRA RSSDDSTASW WALRPCRPQA RP*

speed

0.97 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999963880131 (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)

chr3:9871030T>GN/A show variant in all transcripts IGV

HGNC symbol

TTLL3

Ensembl transcript ID

ENST00000427853

Genbank transcript ID

N/A

UniProt peptide

Q9Y4R7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869T>G
cDNA.1371T>G
g.21261T>G

AA changes

M290R Score: 91 explain score(s)

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

290

frameshift

known variant

Reference ID: rs2290305

database	homozygous (G/G)	heterozygous	allele carriers
1000G	676	1061	1737
ExAC	23140	-13513	9627

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.451	0.44
	1.698	0.425
(flanking)	0.355	0.16

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
Acc increased	21254	wt: 0.32 / mu: 0.41	wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC	attg\|ACCG
Donor gained	21255	0.97	mu: CATTGACCGGAGGCT	TTGA\|ccgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

not conserved

290

Ptroglodytes

not conserved

ENSPTRG00000034246

502

Mmulatta

not conserved

ENSMMUG00000004539

502

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000030276

696

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000053728

576

Dmelanogaster

not conserved

FBgn0031854

637

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023542

551

protein features

start (aa)	end (aa)	feature	details
151	510	DOMAIN	TTL.	lost
469	469	MUTAGEN	E->G: Abolishes monoglycylase activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1059 / 1059

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

353 / 353

position of stopcodon in wt / mu cDNA

1561 / 1561

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

503 / 503

chromosome

strand

last intron/exon boundary

1421

theoretical NMD boundary in CDS

868

length of CDS

1059

coding sequence (CDS) position

869

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

1371

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

21261

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

9871030

original gDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered gDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

original cDNA sequence snippet

GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA

altered cDNA sequence snippet

GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA

wildtype AA sequence

mutated AA sequence

MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRR LDRNCDTGAF
ELIYKQPVTT SPASTPRPSC LLPMYSDTRA RSSDDSTASW WALRPCRPQA RP*

speed

0.99 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems