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: ENST00000318561
Querying Taster for transcript #2: ENST00000521315
Querying Taster for transcript #3: ENST00000437090
Querying Taster for transcript #4: ENST00000520605
Querying Taster for transcript #5: ENST00000522109
Querying Taster for transcript #6: ENST00000524255
MT speed 0 s - this script 5.338427 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SFTPC	polymorphism_automatic	0.086455439205411	simple_aae		affected		S180N	single base exchange	rs1124		show file
SFTPC	polymorphism_automatic	0.086455439205411	simple_aae		affected		S133N	single base exchange	rs1124		show file
SFTPC	polymorphism_automatic	0.365791108804098	simple_aae		affected		S186N	single base exchange	rs1124		show file
SFTPC	polymorphism_automatic	0.999999999483032	without_aae		affected			single base exchange	rs1124		show file
SFTPC	polymorphism_automatic	0.999999999483032	without_aae		affected			single base exchange	rs1124		show file
SFTPC	polymorphism_automatic	0.999999999999188	without_aae		affected			single base exchange	rs1124		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.913544560794589 (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 CM040800)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:22021517G>AN/A show variant in all transcripts IGV

HGNC symbol

SFTPC

Ensembl transcript ID

ENST00000521315

Genbank transcript ID

NM_001172357

UniProt peptide

P11686

alteration type

single base exchange

alteration region

CDS

DNA changes

c.539G>A
cDNA.571G>A
g.7092G>A

AA changes

S180N Score: 46 explain score(s)

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

180

frameshift

known variant

Reference ID: rs1124

database	homozygous (A/A)	heterozygous	allele carriers
1000G	163	856	1019
ExAC	5638	21491	27129

known disease mutation at this position, please check HGMD for details (HGMD ID CM040800)

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.975
	0.581	0.988
(flanking)	1.825	1

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 gained	7084	0.31	mu: GGCATGGCCGTGAAC	CATG\|gccg
Donor gained	7087	0.97	mu: ATGGCCGTGAACACC	GGCC\|gtga

distance from splice site

104

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

180

mutated

all conserved

180

Ptroglodytes

all identical

ENSPTRG00000020053

186

Mmulatta

all identical

ENSMMUG00000013029

180

Fcatus

all identical

ENSFCAG00000004717

184

Mmusculus

all identical

ENSMUSG00000022097

182

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031314

167

protein features

start (aa)	end (aa)	feature	details
59	197	PROPEP	/FTId=PRO_0000033479.	lost
94	197	DOMAIN	BRICHOS.	lost
183	189	HELIX		might get lost (downstream of altered splice site)
194	197	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

576 / 576

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

192 / 192

position of stopcodon in wt / mu cDNA

608 / 608

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

33 / 33

chromosome

strand

last intron/exon boundary

468

theoretical NMD boundary in CDS

385

length of CDS

576

coding sequence (CDS) position

539

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

571

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

7092

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

22021517

original gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

original cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

wildtype AA sequence

MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM
SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC
CYIMKIAPES IPSLEALTRK VHNFQAKPAV PTSKLGQAEG RDAGSAPSGG DPAFLGMAVS
TLCGEVPLYY I*

mutated AA sequence

speed

1.08 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: 0.913544560794589 (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 CM040800)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:22021517G>AN/A show variant in all transcripts IGV

HGNC symbol

SFTPC

Ensembl transcript ID

ENST00000524255

Genbank transcript ID

N/A

UniProt peptide

P11686

alteration type

single base exchange

alteration region

CDS

DNA changes

c.398G>A
cDNA.420G>A
g.7092G>A

AA changes

S133N Score: 46 explain score(s)

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

133

frameshift

known variant

Reference ID: rs1124

database	homozygous (A/A)	heterozygous	allele carriers
1000G	163	856	1019
ExAC	5638	21491	27129

known disease mutation at this position, please check HGMD for details (HGMD ID CM040800)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.975
	0.581	0.988
(flanking)	1.825	1

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 gained	7084	0.31	mu: GGCATGGCCGTGAAC	CATG\|gccg
Donor gained	7087	0.97	mu: ATGGCCGTGAACACC	GGCC\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

133

mutated

all conserved

133

Ptroglodytes

all identical

ENSPTRG00000020053

186

Mmulatta

all identical

ENSMMUG00000013029

180

Fcatus

all identical

ENSFCAG00000004717

184

Mmusculus

all identical

ENSMUSG00000022097

182

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031314

172

protein features

start (aa)	end (aa)	feature	details
59	197	PROPEP	/FTId=PRO_0000033479.	lost
94	197	DOMAIN	BRICHOS.	lost
134	143	HELIX		might get lost (downstream of altered splice site)
183	189	HELIX		might get lost (downstream of altered splice site)
194	197	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

435 / 435

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

145 / 145

position of stopcodon in wt / mu cDNA

457 / 457

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

23 / 23

chromosome

strand

last intron/exon boundary

468

theoretical NMD boundary in CDS

395

length of CDS

435

coding sequence (CDS) position

398

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

420

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

7092

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

22021517

original gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

original cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

wildtype AA sequence

MDVGSKEVLM ESPPVLEMSI GAPEAQQRLA LSEHLVTTAT FSIGSTGLVV YDYQQLLIAY
KPAPGTCCYI MKIAPESIPS LEALTRKVHN FQMECSLQAK PAVPTSKLGQ AEGRDAGSAP
SGGDPAFLGM AVSTLCGEVP LYYI*

mutated AA sequence

MDVGSKEVLM ESPPVLEMSI GAPEAQQRLA LSEHLVTTAT FSIGSTGLVV YDYQQLLIAY
KPAPGTCCYI MKIAPESIPS LEALTRKVHN FQMECSLQAK PAVPTSKLGQ AEGRDAGSAP
SGGDPAFLGM AVNTLCGEVP LYYI*

speed

0.43 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.634208891195902 (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 CM040800)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:22021517G>AN/A show variant in all transcripts IGV

HGNC symbol

SFTPC

Ensembl transcript ID

ENST00000318561

Genbank transcript ID

NM_001172410

UniProt peptide

P11686

alteration type

single base exchange

alteration region

CDS

DNA changes

c.557G>A
cDNA.731G>A
g.7092G>A

AA changes

S186N Score: 46 explain score(s)

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

186

frameshift

known variant

Reference ID: rs1124

database	homozygous (A/A)	heterozygous	allele carriers
1000G	163	856	1019
ExAC	5638	21491	27129

known disease mutation at this position, please check HGMD for details (HGMD ID CM040800)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.975
	0.581	0.988
(flanking)	1.825	1

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 gained	7084	0.31	mu: GGCATGGCCGTGAAC	CATG\|gccg
Donor gained	7087	0.97	mu: ATGGCCGTGAACACC	GGCC\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

186

mutated

all conserved

186

Ptroglodytes

all identical

ENSPTRG00000020053

186

Mmulatta

all identical

ENSMMUG00000013029

180

Fcatus

all identical

ENSFCAG00000004717

184

Mmusculus

all identical

ENSMUSG00000022097

182

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031314

157

protein features

start (aa)	end (aa)	feature	details
59	197	PROPEP	/FTId=PRO_0000033479.	lost
94	197	DOMAIN	BRICHOS.	lost
183	189	HELIX		lost
194	197	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

594 / 594

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

198 / 198

position of stopcodon in wt / mu cDNA

768 / 768

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

175 / 175

chromosome

strand

last intron/exon boundary

787

theoretical NMD boundary in CDS

562

length of CDS

594

coding sequence (CDS) position

557

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

731

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

7092

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

22021517

original gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

original cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

wildtype AA sequence

MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM
SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC
CYIMKIAPES IPSLEALTRK VHNFQMECSL QAKPAVPTSK LGQAEGRDAG SAPSGGDPAF
LGMAVSTLCG EVPLYYI*

mutated AA sequence

speed

1.04 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.1696817582027e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM040800)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:22021517G>AN/A show variant in all transcripts IGV

HGNC symbol

SFTPC

Ensembl transcript ID

ENST00000437090

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.701G>A
g.7092G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1124

database	homozygous (A/A)	heterozygous	allele carriers
1000G	163	856	1019
ExAC	5638	21491	27129

known disease mutation at this position, please check HGMD for details (HGMD ID CM040800)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.975
	0.581	0.988
(flanking)	1.825	1

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

splice sites

splice site change occurs after stopcodon (at aa 220) splice site change occurs after stopcodon (at aa 221)

effect	gDNA position	score	detection sequence	exon-intron border
Donor gained	7084	0.31	mu: GGCATGGCCGTGAAC	CATG\|gccg
Donor gained	7087	0.97	mu: ATGGCCGTGAACACC	GGCC\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

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

N/A

position of start ATG in wt / mu cDNA

32 / 32

chromosome

strand

last intron/exon boundary

467

theoretical NMD boundary in CDS

385

length of CDS

486

coding sequence (CDS) position

N/A

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

701

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

7092

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

22021517

original gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

original cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

wildtype AA sequence

MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM
SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC
CYIMKIAPES IPSLEALTRK VHNFQHSPSL LMRKLRLREI A*

mutated AA sequence

N/A

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.1696817582027e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM040800)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:22021517G>AN/A show variant in all transcripts IGV

HGNC symbol

SFTPC

Ensembl transcript ID

ENST00000520605

Genbank transcript ID

N/A

UniProt peptide

P11686

alteration type

single base exchange

alteration region

intron

DNA changes

g.7092G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1124

database	homozygous (A/A)	heterozygous	allele carriers
1000G	163	856	1019
ExAC	5638	21491	27129

known disease mutation at this position, please check HGMD for details (HGMD ID CM040800)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.975
	0.581	0.988
(flanking)	1.825	1

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 gained	7084	0.31	mu: GGCATGGCCGTGAAC	CATG\|gccg
Donor gained	7087	0.97	mu: ATGGCCGTGAACACC	GGCC\|gtga

distance from splice site

262

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
59	197	PROPEP	/FTId=PRO_0000033479.	might get lost (downstream of altered splice site)
91	96	STRAND		might get lost (downstream of altered splice site)
94	197	DOMAIN	BRICHOS.	might get lost (downstream of altered splice site)
97	99	TURN		might get lost (downstream of altered splice site)
100	105	STRAND		might get lost (downstream of altered splice site)
106	109	TURN		might get lost (downstream of altered splice site)
110	116	STRAND		might get lost (downstream of altered splice site)
121	125	STRAND		might get lost (downstream of altered splice site)
134	143	HELIX		might get lost (downstream of altered splice site)
183	189	HELIX		might get lost (downstream of altered splice site)
194	197	STRAND		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

30 / 30

chromosome

strand

last intron/exon boundary

306

theoretical NMD boundary in CDS

226

length of CDS

468

coding sequence (CDS) position

N/A

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

N/A

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

7092

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

22021517

original gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MDVGSKEVLM ESPPVLEMSI GAPEAQQRLA LSEHLVTTAT FSIGSTGLVV YDYQQLLIAY
KPAPGTCCYI MKIAPESIPS LEALTRKVHN FQGQWKPQRE RKRPGQRVFC SFCRRARSCF
CPHRRDKPWR NGSLGRGWEW AEVAPRGPGT PATTE*

mutated AA sequence

N/A

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 8.12255490164704e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM040800)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:22021517G>AN/A show variant in all transcripts IGV

HGNC symbol

SFTPC

Ensembl transcript ID

ENST00000522109

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.917G>A
g.7092G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1124

database	homozygous (A/A)	heterozygous	allele carriers
1000G	163	856	1019
ExAC	5638	21491	27129

known disease mutation at this position, please check HGMD for details (HGMD ID CM040800)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.73	0.975
	0.581	0.988
(flanking)	1.825	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing
splice site change occurs after stopcodon (at aa 295) splice site change occurs after stopcodon (at aa 296) splice site change occurs after stopcodon (at aa 298)

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	7095	sequence motif lost	-	wt: CACC\|ctgt mu: CACC.ctgt
Donor gained	7084	0.31	mu: GGCATGGCCGTGAAC	CATG\|gccg
Donor gained	7087	0.97	mu: ATGGCCGTGAACACC	GGCC\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

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

N/A

position of start ATG in wt / mu cDNA

25 / 25

chromosome

strand

last intron/exon boundary

349

theoretical NMD boundary in CDS

274

length of CDS

453

coding sequence (CDS) position

N/A

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

917

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

7092

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

22021517

original gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGC

altered gDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACCCTGTGTGGCGAGGTGC

original cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAGCACC

altered cDNA sequence snippet

CTTCCTGGGCATGGCCGTGAACACC

wildtype AA sequence

MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM
SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC
CYIMKIAPES IPSLEALTRK VHNFQVCVCG *

mutated AA sequence

N/A

speed

1.28 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