Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999864 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:28649042T>CN/A show variant in all transcripts   IGV
HGNC symbol DSC2
Ensembl transcript ID ENST00000280904
Genbank transcript ID NM_024422
UniProt peptide Q02487
alteration type single base exchange
alteration region CDS
DNA changes c.2326A>G
cDNA.2770A>G
g.33337A>G
AA changes I776V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 776
frameshift no
known variant Reference ID: rs1893963
databasehomozygous (C/C)heterozygousallele carriers
1000G165654819
ExAC14991143912938
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3280.047
0.4720.113
(flanking)0.4020.239
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased33328wt: 0.22 / mu: 0.31wt: AGGGAGTTTGTGGCACCGTGGGATCAGGAATCAAAAACGGA
mu: AGGGAGTTTGTGGCACCGTGGGATCAGGAGTCAAAAACGGA		 gtgg|GATC
Donor gained333360.99mu: TCAGGAGTCAAAAAC AGGA|gtca
Donor gained333310.92mu: TGGGATCAGGAGTCA GGAT|cagg
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      776AQGVCGTVGSGIKNGGQETIEMVK
mutated  all conserved    776AQGVCGTVGSGVKNGG
Ptroglodytes  all conserved  ENSPTRG00000009941  789VCGAVGSGVKNGGQETIEMV
Mmulatta  all conserved  ENSMMUG00000011687  776AQGVCGTMGSGVKNGG
Fcatus  all conserved  ENSFCAG00000000644  754AQGICGTLGSGVKNGGQETIEMV
Mmusculus  all conserved  ENSMUSG00000024331  776GQTAFTTMGTGVKSGGQETIEMV
Ggallus  all identical  ENSGALG00000015140  745-----DQVGSGIKTGDQQTFEMV
Trubripes  not conserved  ENSTRUG00000007388  772AGAKGTLKGNTGTWGSGQGS
Drerio  all conserved  ENSDARG00000039677  795ADVVDGSFQSAVTESKNVNTAPG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000004721  776LSGNAPSVSGGKGQGGQSGSQVI
protein features
start (aa)end (aa)featuredetails 
716901TOPO_DOMCytoplasmic (Potential).lost
864864MOD_RESPhosphoserine (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2706 / 2706
position (AA) of stopcodon in wt / mu AA sequence 902 / 902
position of stopcodon in wt / mu cDNA 3150 / 3150
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 445 / 445
chromosome 18
strand -1
last intron/exon boundary 2953
theoretical NMD boundary in CDS 2458
length of CDS 2706
coding sequence (CDS) position 2326
cDNA position
(for ins/del: last normal base / first normal base)		 2770
gDNA position
(for ins/del: last normal base / first normal base)		 33337
chromosomal position
(for ins/del: last normal base / first normal base)		 28649042
original gDNA sequence snippet GTGGCACCGTGGGATCAGGAATCAAAAACGGAGGTCAGGAG
altered gDNA sequence snippet GTGGCACCGTGGGATCAGGAGTCAAAAACGGAGGTCAGGAG
original cDNA sequence snippet GTGGCACCGTGGGATCAGGAATCAAAAACGGAGGTCAGGAG
altered cDNA sequence snippet GTGGCACCGTGGGATCAGGAGTCAAAAACGGAGGTCAGGAG
wildtype AA sequence MEAARPSGSW NGALCRLLLL TLAILIFASD ACKNVTLHVP SKLDAEKLVG RVNLKECFTA
ANLIHSSDPD FQILEDGSVY TTNTILLSSE KRSFTILLSN TENQEKKKIF VFLEHQTKVL
KKRHTKEKVL RRAKRRWAPI PCSMLENSLG PFPLFLQQVQ SDTAQNYTIY YSIRGPGVDQ
EPRNLFYVER DTGNLYCTRP VDREQYESFE IIAFATTPDG YTPELPLPLI IKIEDENDNY
PIFTEETYTF TIFENCRVGT TVGQVCATDK DEPDTMHTRL KYSIIGQVPP SPTLFSMHPT
TGVITTTSSQ LDRELIDKYQ LKIKVQDMDG QYFGLQTTST CIINIDDVND HLPTFTRTSY
VTSVEENTVD VEILRVTVED KDLVNTANWR ANYTILKGNE NGNFKIVTDA KTNEGVLCVV
KPLNYEEKQQ MILQIGVVNE APFSREASPR SAMSTATVTV NVEDQDEGPE CNPPIQTVRM
KENAEVGTTS NGYKAYDPET RSSSGIRYKK LTDPTGWVTI DENTGSIKVF RSLDREAETI
KNGIYNITVL ASDQGGRTCT GTLGIILQDV NDNSPFIPKK TVIICKPTMS SAEIVAVDPD
EPIHGPPFDF SLESSTSEVQ RMWRLKAIND TAARLSYQND PPFGSYVVPI TVRDRLGMSS
VTSLDVTLCD CITENDCTHR VDPRIGGGGV QLGKWAILAI LLGIALLFCI LFTLVCGASG
TSKQPKVIPD DLAQQNLIVS NTEAPGDDKV YSANGFTTQT VGASAQGVCG TVGSGIKNGG
QETIEMVKGG HQTSESCRGA GHHHTLDSCR GGHTEVDNCR YTYSEWHSFT QPRLGEKVYL
CNQDENHKHA QDYVLTYNYE GRGSVAGSVG CCSERQEEDG LEFLDNLEPK FRTLAEACMK
R*
mutated AA sequence MEAARPSGSW NGALCRLLLL TLAILIFASD ACKNVTLHVP SKLDAEKLVG RVNLKECFTA
ANLIHSSDPD FQILEDGSVY TTNTILLSSE KRSFTILLSN TENQEKKKIF VFLEHQTKVL
KKRHTKEKVL RRAKRRWAPI PCSMLENSLG PFPLFLQQVQ SDTAQNYTIY YSIRGPGVDQ
EPRNLFYVER DTGNLYCTRP VDREQYESFE IIAFATTPDG YTPELPLPLI IKIEDENDNY
PIFTEETYTF TIFENCRVGT TVGQVCATDK DEPDTMHTRL KYSIIGQVPP SPTLFSMHPT
TGVITTTSSQ LDRELIDKYQ LKIKVQDMDG QYFGLQTTST CIINIDDVND HLPTFTRTSY
VTSVEENTVD VEILRVTVED KDLVNTANWR ANYTILKGNE NGNFKIVTDA KTNEGVLCVV
KPLNYEEKQQ MILQIGVVNE APFSREASPR SAMSTATVTV NVEDQDEGPE CNPPIQTVRM
KENAEVGTTS NGYKAYDPET RSSSGIRYKK LTDPTGWVTI DENTGSIKVF RSLDREAETI
KNGIYNITVL ASDQGGRTCT GTLGIILQDV NDNSPFIPKK TVIICKPTMS SAEIVAVDPD
EPIHGPPFDF SLESSTSEVQ RMWRLKAIND TAARLSYQND PPFGSYVVPI TVRDRLGMSS
VTSLDVTLCD CITENDCTHR VDPRIGGGGV QLGKWAILAI LLGIALLFCI LFTLVCGASG
TSKQPKVIPD DLAQQNLIVS NTEAPGDDKV YSANGFTTQT VGASAQGVCG TVGSGVKNGG
QETIEMVKGG HQTSESCRGA GHHHTLDSCR GGHTEVDNCR YTYSEWHSFT QPRLGEKVYL
CNQDENHKHA QDYVLTYNYE GRGSVAGSVG CCSERQEEDG LEFLDNLEPK FRTLAEACMK
R*
speed 0.56 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