Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998299896 (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)
 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 ENST00000507835
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.309T>G
cDNA.546T>G
g.323644T>G
AA changes C103W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 103
frameshift no
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
PhyloPPhastCons
(flanking)6.1081
-0.0150.985
(flanking)6.1081
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 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      103DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    103DIDECMIMNGGWDTQCTNSEGSY
Ptroglodytes  all identical  ENSPTRG00000017200  1207DIDECMIMNGGCDTQCTNSEGSY
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNSEGSY
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNSEGSY
Ggallus  all identical  ENSGALG00000014686  1251DIDECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  427DDDECTLSTHNCPSNYDCHNTRGSF
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1071 / 1071
position (AA) of stopcodon in wt / mu AA sequence 357 / 357
position of stopcodon in wt / mu cDNA 1308 / 1308
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 238 / 238
chromosome 5
strand -1
last intron/exon boundary 1133
theoretical NMD boundary in CDS 845
length of CDS 1071
coding sequence (CDS) position 309
cDNA position
(for ins/del: last normal base / first normal base)		 546
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 MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS EGSYECSCSE
GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM KTCIDVNECD
LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS
FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ GGSPGFQLIF KLDQPQ*
mutated AA sequence MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGWDTQCTNS EGSYECSCSE
GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM KTCIDVNECD
LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS
FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ GGSPGFQLIF KLDQPQ*
speed 1.11 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