MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000374708
Querying Taster for transcript #2: ENST00000341947
Querying Taster for transcript #3: ENST00000357486
Querying Taster for transcript #4: ENST00000374714
Querying Taster for transcript #5: ENST00000374713
Querying Taster for transcript #6: ENST00000395197
Querying Taster for transcript #7: ENST00000374712
Querying Taster for transcript #8: ENST00000361917
MT speed 0 s - this script 5.844967 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
COL11A2	disease_causing	1	simple_aae		affected		P535T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P621T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P600T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P574T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P595T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P561T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P540T	single base exchange	rs121912952		show file
COL11A2	disease_causing	1	simple_aae		affected		P514T	single base exchange	rs121912952		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000374708

Genbank transcript ID

NM_080681

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1603C>A
cDNA.1862C>A
g.14357C>A

AA changes

P535T Score: 38 explain score(s)

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

535

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

known as potential disease variant: rs17129 (probable pathogenic for Deafness, autosomal recessive 53|not specified|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053813)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053813)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053813)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

535

mutated

not conserved

535

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	545	DOMAIN	Collagen-like 2.	lost
487	1500	REGION	Triple-helical region.	lost
542	542	CONFLICT	A -> P (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
546	590	DOMAIN	Collagen-like 3.	might get lost (downstream of altered splice site)
548	549	CONFLICT	MP -> TL (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
578	579	CONFLICT	AQ -> PR (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4953 / 4953

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

1651 / 1651

position of stopcodon in wt / mu cDNA

5212 / 5212

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

260 / 260

chromosome

strand

-1

last intron/exon boundary

5072

theoretical NMD boundary in CDS

4762

length of CDS

4953

coding sequence (CDS) position

1603

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

1862

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGITGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *

speed

0.59 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

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000341947

Genbank transcript ID

NM_080680

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1861C>A
cDNA.2089C>A
g.14357C>A

AA changes

P621T Score: 38 explain score(s)

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

621

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

621

mutated

not conserved

621

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	1500	REGION	Triple-helical region.	lost
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5211 / 5211

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

1737 / 1737

position of stopcodon in wt / mu cDNA

5439 / 5439

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

5299

theoretical NMD boundary in CDS

5020

length of CDS

5211

coding sequence (CDS) position

1861

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

2089

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL
GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL
GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI TGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*

speed

0.85 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000357486

Genbank transcript ID

N/A

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1798C>A
cDNA.2026C>A
g.14357C>A

AA changes

P600T Score: 38 explain score(s)

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

600

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

600

mutated

not conserved

600

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	1500	REGION	Triple-helical region.	lost
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5148 / 5148

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

1716 / 1716

position of stopcodon in wt / mu cDNA

5376 / 5376

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

5236

theoretical NMD boundary in CDS

4957

length of CDS

5148

coding sequence (CDS) position

1798

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

2026

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQEQTDLQVP
PTADRFQAEE YGEGGTDPPE GPYDYTYGYG DDYREETELG PALSAETAHS GAAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIP
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPG QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQEQTDLQVP
PTADRFQAEE YGEGGTDPPE GPYDYTYGYG DDYREETELG PALSAETAHS GAAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIT
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPG QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*

speed

0.97 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000374713

Genbank transcript ID

N/A

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1720C>A
cDNA.1948C>A
g.14357C>A

AA changes

P574T Score: 38 explain score(s)

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

574

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

574

mutated

not conserved

574

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	1500	REGION	Triple-helical region.	lost
546	590	DOMAIN	Collagen-like 3.	lost
578	579	CONFLICT	AQ -> PR (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5070 / 5070

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

1690 / 1690

position of stopcodon in wt / mu cDNA

5298 / 5298

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

5158

theoretical NMD boundary in CDS

4879

length of CDS

5070

coding sequence (CDS) position

1720

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

1948

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQEQTD LQVPPTADRF QAEEYGEGGT DPPEGPYDYT
YGYGDDYREE TELGPALSAE TAHSGAAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQEQTD LQVPPTADRF QAEEYGEGGT DPPEGPYDYT
YGYGDDYREE TELGPALSAE TAHSGAAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGITGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*

speed

0.59 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000374714

Genbank transcript ID

N/A

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1783C>A
cDNA.2011C>A
g.14357C>A

AA changes

P595T Score: 38 explain score(s)

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

595

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

595

mutated

not conserved

595

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	1500	REGION	Triple-helical region.	lost
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5133 / 5133

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

1711 / 1711

position of stopcodon in wt / mu cDNA

5361 / 5361

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

5221

theoretical NMD boundary in CDS

4942

length of CDS

5133

coding sequence (CDS) position

1783

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

2011

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEEQT DLQVPPTADR
FQAEEYGEGG TDPPEGPYDY TYGYGDDYRE ETELGPALSA ETAHSGAAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEEQT DLQVPPTADR
FQAEEYGEGG TDPPEGPYDY TYGYGDDYRE ETELGPALSA ETAHSGAAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGITGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *

speed

0.46 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000395197

Genbank transcript ID

N/A

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1681C>A
cDNA.1909C>A
g.14357C>A

AA changes

P561T Score: 38 explain score(s)

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

561

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

561

mutated

not conserved

561

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	1500	REGION	Triple-helical region.	lost
546	590	DOMAIN	Collagen-like 3.	lost
578	579	CONFLICT	AQ -> PR (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5031 / 5031

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

1677 / 1677

position of stopcodon in wt / mu cDNA

5259 / 5259

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

5119

theoretical NMD boundary in CDS

4840

length of CDS

5031

coding sequence (CDS) position

1681

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

1909

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI TGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*

speed

0.50 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000374712

Genbank transcript ID

N/A

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1618C>A
cDNA.1846C>A
g.14357C>A

AA changes

P540T Score: 38 explain score(s)

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

540

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

540

mutated

not conserved

540

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	545	DOMAIN	Collagen-like 2.	lost
487	1500	REGION	Triple-helical region.	lost
542	542	CONFLICT	A -> P (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
546	590	DOMAIN	Collagen-like 3.	might get lost (downstream of altered splice site)
548	549	CONFLICT	MP -> TL (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
578	579	CONFLICT	AQ -> PR (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4968 / 4968

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

1656 / 1656

position of stopcodon in wt / mu cDNA

5196 / 5196

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

5056

theoretical NMD boundary in CDS

4777

length of CDS

4968

coding sequence (CDS) position

1618

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

1846

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIP
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPG QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIT
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPG QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*

speed

0.45 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 1 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17129 (probable pathogenic)
known disease mutation at this position (HGMD CM053813)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:33145920G>TN/A show variant in all transcripts IGV

HGNC symbol

COL11A2

Ensembl transcript ID

ENST00000361917

Genbank transcript ID

NM_080679

UniProt peptide

P13942

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1540C>A
cDNA.1768C>A
g.14357C>A

AA changes

P514T Score: 38 explain score(s)

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

514

frameshift

known variant

Reference ID: rs121912952

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	15	15

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.602	1
	2.031	1
(flanking)	0.431	0.999

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 decreased	14368	wt: 0.71 / mu: 0.32	wt: CCTGGTATTCCTGGACCCCCTGTAAGTGACTCCCTGACTTC mu: CCTGGTATTACTGGACCCCCTGTAAGTGACTCCCTGACTTC	ccct\|GTAA
Acc increased	14360	wt: 0.31 / mu: 0.53	wt: AAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGACTCC mu: AAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGACTCC	cctg\|GACC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

514

mutated

not conserved

514

Ptroglodytes

all identical

ENSPTRG00000018033

583

Mmulatta

all identical

ENSMMUG00000003850

620

Fcatus

not conserved

ENSFCAG00000004005

248

Mmusculus

all identical

ENSMUSG00000024330

574

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005534

688

Drerio

all identical

ENSDARG00000012422

867

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000012724

851

protein features

start (aa)	end (aa)	feature	details
487	545	DOMAIN	Collagen-like 2.	lost
487	1500	REGION	Triple-helical region.	lost
530	531	CONFLICT	PP -> SL (in Ref. 1; AAC50213/AAC50214/ AAC50215, 5; AAC17464 and 6; AAA35498).	might get lost (downstream of altered splice site)
542	542	CONFLICT	A -> P (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
546	590	DOMAIN	Collagen-like 3.	might get lost (downstream of altered splice site)
548	549	CONFLICT	MP -> TL (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
578	579	CONFLICT	AQ -> PR (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
704	705	CONFLICT	NQ -> KP (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
720	720	CONFLICT	R -> Q (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
726	726	CONFLICT	D -> N (in Ref. 6; AAA35498).	might get lost (downstream of altered splice site)
805	862	DOMAIN	Collagen-like 4.	might get lost (downstream of altered splice site)
843	846	CONFLICT	TGPR -> HGST (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
863	899	DOMAIN	Collagen-like 5.	might get lost (downstream of altered splice site)
882	884	CONFLICT	QGP -> SGS (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1031	1032	CONFLICT	PP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1091	1091	CONFLICT	D -> V (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1099	1156	DOMAIN	Collagen-like 6.	might get lost (downstream of altered splice site)
1124	1124	CONFLICT	A -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1127	1133	CONFLICT	EPGARGP -> GAGGLGT (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1157	1172	DOMAIN	Collagen-like 7.	might get lost (downstream of altered splice site)
1253	1253	CONFLICT	P -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1257	1257	CONFLICT	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).	might get lost (downstream of altered splice site)
1441	1499	DOMAIN	Collagen-like 8.	might get lost (downstream of altered splice site)
1501	1736	PROPEP	C-terminal propeptide. /FTId=PRO_0000005841.	might get lost (downstream of altered splice site)
1541	1735	DOMAIN	Fibrillar collagen NC1.	might get lost (downstream of altered splice site)
1552	1552	CONFLICT	E -> R (in Ref. 7; AAA52034).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1571	1571	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1577	1577	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1594	1594	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1603	1603	DISULFID	Interchain (By similarity).	might get lost (downstream of altered splice site)
1604	1604	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1612	1612	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1655	1655	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1689	1689	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1733	1733	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4890 / 4890

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

1630 / 1630

position of stopcodon in wt / mu cDNA

5118 / 5118

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

229 / 229

chromosome

strand

-1

last intron/exon boundary

4978

theoretical NMD boundary in CDS

4699

length of CDS

4890

coding sequence (CDS) position

1540

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

1768

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

14357

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

33145920

original gDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGTAAGTGAC

altered gDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGTAAGTGAC

original cDNA sequence snippet

CCAAAGGCCCACCTGGTATTCCTGGACCCCCTGGCGTCCGA

altered cDNA sequence snippet

CCAAAGGCCCACCTGGTATTACTGGACCCCCTGGCGTCCGA

wildtype AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*

mutated AA sequence

MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGITGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*

speed

1.18 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems