mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.99999999897621 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM000703)
known disease mutation: rs527 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:127671235A>CN/A show variant in all transcripts IGV

HGNC symbol

FBN2

Ensembl transcript ID

ENST00000508989

Genbank transcript ID

N/A

UniProt peptide

P35556

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3660T>G
cDNA.3878T>G
g.323644T>G

AA changes

C1220W Score: 215 explain score(s)

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

1220

frameshift

known variant

Reference ID: rs28931602
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs527 (pathogenic for Congenital contractural arachnodactyly) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.108	1
	-0.015	0.985
(flanking)	6.108	1

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1220

mutated

not conserved

1220

Ptroglodytes

all identical

ENSPTRG00000017200

1332

DMH

Mmulatta

all identical

ENSMMUG00000010682

1253

Fcatus

all identical

ENSFCAG00000009685

1235

Mmusculus

all identical

ENSMUSG00000024598

1246

Ggallus

all identical

ENSGALG00000014686

1251

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0051999

664

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000032535

1150

protein features

start (aa)	end (aa)	feature	details
1200	1241	DOMAIN	EGF-like 18; calcium-binding.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4422 / 4422

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

1474 / 1474

position of stopcodon in wt / mu cDNA

4640 / 4640

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

219 / 219

chromosome

strand

-1

last intron/exon boundary

4465

theoretical NMD boundary in CDS

4196

length of CDS

4422

coding sequence (CDS) position

3660

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

3878

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

323644

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

127671235

original gDNA sequence snippet

ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC

altered gDNA sequence snippet

ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC

original cDNA sequence snippet

ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC

altered cDNA sequence snippet

ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC

wildtype AA sequence

MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVLQQCSVRC
MNGGTCADDH CQCQKGYIGT YCGQPVCENG CQNGGRCIGP NRCACVYGFT GPQCERDYRT
GPCFTQVNNQ MCQGQLTGIV CTKTLCCATI GRAWGHPCEM CPAQPQPCRR GFIPNIRTGA
CQDVDECQAI PGICQGGNCI NTVGSFECRC PAGHKQSETT QKCEDIDECS IIPGICETGE
CSNTVGSYFC VCPRGYVTST DGSRCIDQRT GMCFSGLVNG RCAQELPGRM TKMQCCCEPG
RCWGIGTIPE ACPVRGSEEY RRLCMDGLPM GGIPGSAGSR PGGTGGNGFA PSGNGNGYGP
GGTGFIPIPG GNGFSPGVGG AGVGAGGQGP IITGLTILNQ TIDICKHHAN LCLNGRCIPT
VSSYRCECNM GYKQDANGDC IDVDECTSNP CTNGDCVNTP GSYYCKCHAG FQRTPTKQAC
IDIDECIQNG VLCKNGRCVN TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
NEDGSFKCIC KPGFVLAPNG RYCTDVDECQ TPGICMNGHC INSEGSFRCD CPPGLAVGMD
GRVCVDTHMR STCYGGIKKG VCVRPFPGAV TKSECCCANP DYGFGEPCQP CPAKNSAEFH
GLCSSGVGIT VDGRDINECA LDPDICANGI CENLRGSYRC NCNSGYEPDA SGRNCIDIDE
CLVNRLLCDN GLCRNTPGSY SCTCPPGYVF RTETETCEDI NECESNPCVN GACRNNLGSF
NCECSPGSKL SSTGLICIDS LKGTCWLNIQ DSRCEVNING ATLKSECCAT LGAAWGSPCE
RCELDTACPR GLARIKGVTC EDVNECEVFP GVCPNGRCVN SKGSFHCECP EGLTLDGTGR
VCLDIRMEQC YLKWDEDECI HPVPGKFRMD ACCCAVGAAW GTECEECPKP GTKEYETLCP
RGAGFANRGD VLTGRPFYKD INECKAFPGM CTYGKCRNTI GSFKCRCNSG FALDMEERNC
TDIDECRISP DLCGSGICVN TPGSFECECF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGC DTQCTNSEGS YECSCSEGYA LMPDGRSCAD IDECENNPDI
CDGGQCTNIP GEYRCLCYDG FMASMDMKTC IDVNECDLNS NICMFGECEN TKGSFICHCQ
LGYSVKKGTT GCTDVDECEI GAHNCDMHAS CLNIPGSFKC SCREGWIGNG IKCIDLDECS
NGTHQCSINA QCVNTPGSYR CACSEGFTGD GFTCSDVDEC AENINLCENG QCLNVPGAYR
CECEMGFTPA SDSRSCQGGS PGFQLIFKLD QPQ*

mutated AA sequence

MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVLQQCSVRC
MNGGTCADDH CQCQKGYIGT YCGQPVCENG CQNGGRCIGP NRCACVYGFT GPQCERDYRT
GPCFTQVNNQ MCQGQLTGIV CTKTLCCATI GRAWGHPCEM CPAQPQPCRR GFIPNIRTGA
CQDVDECQAI PGICQGGNCI NTVGSFECRC PAGHKQSETT QKCEDIDECS IIPGICETGE
CSNTVGSYFC VCPRGYVTST DGSRCIDQRT GMCFSGLVNG RCAQELPGRM TKMQCCCEPG
RCWGIGTIPE ACPVRGSEEY RRLCMDGLPM GGIPGSAGSR PGGTGGNGFA PSGNGNGYGP
GGTGFIPIPG GNGFSPGVGG AGVGAGGQGP IITGLTILNQ TIDICKHHAN LCLNGRCIPT
VSSYRCECNM GYKQDANGDC IDVDECTSNP CTNGDCVNTP GSYYCKCHAG FQRTPTKQAC
IDIDECIQNG VLCKNGRCVN TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
NEDGSFKCIC KPGFVLAPNG RYCTDVDECQ TPGICMNGHC INSEGSFRCD CPPGLAVGMD
GRVCVDTHMR STCYGGIKKG VCVRPFPGAV TKSECCCANP DYGFGEPCQP CPAKNSAEFH
GLCSSGVGIT VDGRDINECA LDPDICANGI CENLRGSYRC NCNSGYEPDA SGRNCIDIDE
CLVNRLLCDN GLCRNTPGSY SCTCPPGYVF RTETETCEDI NECESNPCVN GACRNNLGSF
NCECSPGSKL SSTGLICIDS LKGTCWLNIQ DSRCEVNING ATLKSECCAT LGAAWGSPCE
RCELDTACPR GLARIKGVTC EDVNECEVFP GVCPNGRCVN SKGSFHCECP EGLTLDGTGR
VCLDIRMEQC YLKWDEDECI HPVPGKFRMD ACCCAVGAAW GTECEECPKP GTKEYETLCP
RGAGFANRGD VLTGRPFYKD INECKAFPGM CTYGKCRNTI GSFKCRCNSG FALDMEERNC
TDIDECRISP DLCGSGICVN TPGSFECECF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGW DTQCTNSEGS YECSCSEGYA LMPDGRSCAD IDECENNPDI
CDGGQCTNIP GEYRCLCYDG FMASMDMKTC IDVNECDLNS NICMFGECEN TKGSFICHCQ
LGYSVKKGTT GCTDVDECEI GAHNCDMHAS CLNIPGSFKC SCREGWIGNG IKCIDLDECS
NGTHQCSINA QCVNTPGSYR CACSEGFTGD GFTCSDVDEC AENINLCENG QCLNVPGAYR
CECEMGFTPA SDSRSCQGGS PGFQLIFKLD QPQ*

speed

1.01 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