Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999997 (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) chr21:43531403C>GN/A show variant in all transcripts   IGV
HGNC symbol UMODL1
Ensembl transcript ID ENST00000400427
Genbank transcript ID NM_001199527
UniProt peptide Q5DID0
alteration type single base exchange
alteration region CDS
DNA changes c.1855C>G
cDNA.2251C>G
g.48336C>G
AA changes R619G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 619
frameshift no
known variant Reference ID: rs220127
databasehomozygous (G/G)heterozygousallele carriers
1000G14078052212
ExAC20307-784712460
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2020
-0.660
(flanking)0.1710
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased48330wt: 0.63 / mu: 0.99wt: ACCCCAGCCAGCGGA
mu: ACCCCAGCCAGGGGA		 CCCA|gcca
distance from splice site 414
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      619QGSPSQVNPSQRSTSHANSSQGSP
mutated  not conserved    619QGSPSQVNPSQGSTSHANSSQGS
Ptroglodytes  not conserved  ENSPTRG00000013936  686QGSTSHANSSQGSPSQESPSQGSPSHANSSQGS
Mmulatta  not conserved  ENSMMUG00000018057  691QGSPSEVNPSQGSTSQGSPSEGS
Fcatus  not conserved  ENSFCAG00000012699  627-GGSGPVGKDKNSTRQG-LEEGA
Mmusculus  all conserved  ENSMUSG00000054134  662PWAPGQTHGTHQGTTDAPLHTTR
Ggallus  not conserved  ENSGALG00000016157  536EGEIVSPLTERTALEVASSTQLA
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000027055  664GGKLRKPPQVPSLVGPQLLNVTHS------
protein features
start (aa)end (aa)featuredetails 
221272TOPO_DOMExtracellular (Potential).lost
703787DOMAINFibronectin type-III 2.might get lost (downstream of altered splice site)
713713CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
787890DOMAINSEA 2.might get lost (downstream of altered splice site)
897938DOMAINEGF-like 3; calcium-binding (Potential).might get lost (downstream of altered splice site)
901901DISULFIDBy similarity.might get lost (downstream of altered splice site)
908908DISULFIDBy similarity.might get lost (downstream of altered splice site)
914914DISULFIDBy similarity.might get lost (downstream of altered splice site)
923923DISULFIDBy similarity.might get lost (downstream of altered splice site)
984984CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9921235DOMAINZP.might get lost (downstream of altered splice site)
10501050CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11571157DISULFIDBy similarity.might get lost (downstream of altered splice site)
12151215DISULFIDBy similarity.might get lost (downstream of altered splice site)
12731293TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12941318TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4125 / 4125
position (AA) of stopcodon in wt / mu AA sequence 1375 / 1375
position of stopcodon in wt / mu cDNA 4521 / 4521
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 397 / 397
chromosome 21
strand 1
last intron/exon boundary 4543
theoretical NMD boundary in CDS 4096
length of CDS 4125
coding sequence (CDS) position 1855
cDNA position
(for ins/del: last normal base / first normal base)		 2251
gDNA position
(for ins/del: last normal base / first normal base)		 48336
chromosomal position
(for ins/del: last normal base / first normal base)		 43531403
original gDNA sequence snippet GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC
altered gDNA sequence snippet GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC
original cDNA sequence snippet GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC
altered cDNA sequence snippet GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC
wildtype AA sequence MVYRTQYLVV EVPESRNVTD CCEGYEQLGL YCVLPLNQSG QFTSRPGACP AEGPEPSTSP
CSLDIDCPGL EKCCPWSGGR YCMAPAPQAP ERDPVGSWYN VTILVKMDFK ELQQVDPRLL
NHMRLLHSLV TSALQPMAST VHHLHSAPGN ASTTVSRLLL GLPRPLPVAD VSTLLGDIAK
RVYEVISVQV QDVNECFYEE LNACSGRELC ANLEGSYWCV CHQEAPATSP RKLNLEWEDC
PPVSDYVVLN VTSDSFQVSW RLNSTQNHTF HVRVYRGMEL LRSARTQSQA LAVAGLEAGV
LYRVKTSYQG CGADVSTTLT IKTNAQVFEV TIKIVNHNLT EKLLNRSSVE YQDFSRQLLH
EVESSFPPVV SDLYRSGKLR MQIVSLQAGS VVVRLKLTVQ DPGFPMGIST LAPILQPLLA
STVFQIDRQG TRVQDWDECV DSAEHDCSPA AWCINLEGSY TCQCRTTRDA TPSRAGRACE
GDLVSPMGGG LSAATGVTVP GLGTGTAALG LENFTLSPSP GYPQGTPAAG QAWTPEPSPR
RGGSNVVGYD RNNTGKGVEQ EVPSTAPGLG MDQGSPSQVN PSQGSPSQGS LRQESTSQAS
PSQRSTSQGS PSQVNPSQRS TSHANSSQGS PSQGSPSQES PSQGSTSQAS PSHRNTIGVI
GTTSSPKATG STHSFPPGAT DGPLALPGQL QGNSIMEPPS WPSPTEDPTG HFLWHATRST
RETLLNPTWL RNEDSGPSGS VDLPLTSTLT ALKTPACVPV SIGRIMVSNV TSTGFHLAWE
ADLAMDSTFQ LTLTSMWSPA VVLETWNTSV TLSGLEPGVL HLVEIMAKAC GKEGARAHLK
VRTAARKLIG KVRIKNVRYS ESFRNASSQE YRDFLELFFR MVRGSLPATM CQHMDAGGVR
MEVVSVTNGS IVVEFHLLII ADVDVQEVSA AFLTAFQTVP LLEVIRGDTF IQDYDECERK
EDDCVPGTSC RNTLGSFTCS CEGGAPDFPV EYSERPCEGD SPGNETWATS PERPLTTAGT
KAAFVQGTSP TPQGLPQRLN LTGAVRVLCE IEKVVVAIQK RFLQQESIPE SSLYLSHPSC
NVSHSNGTHV LLEAGWSECG TLMQSNMTNT VVRTTLRNDL SQEGIIHHLK ILSPIYCAFQ
NDLLTSSGFT LEWGVYTIIE DLHGAGNFVT EMQLFIGDSP IPQNYSVSAS DDVRIEVGLY
RQKSNLKVVL TECWATPSSN ARDPITFSFI NNSCPVPNTY TNVIENGNSN KAQFKLRIFS
FINDSIVYLH CKLRVCMESP GATCKINCNN FRLLQNSETS ATHQMSWGPL IRSEGEPPHA
EAGLGAGYVV LIVVAIFVLV AGTATLLIVR YQRMNGRYNF KIQSNNFSYQ VFYE*
mutated AA sequence MVYRTQYLVV EVPESRNVTD CCEGYEQLGL YCVLPLNQSG QFTSRPGACP AEGPEPSTSP
CSLDIDCPGL EKCCPWSGGR YCMAPAPQAP ERDPVGSWYN VTILVKMDFK ELQQVDPRLL
NHMRLLHSLV TSALQPMAST VHHLHSAPGN ASTTVSRLLL GLPRPLPVAD VSTLLGDIAK
RVYEVISVQV QDVNECFYEE LNACSGRELC ANLEGSYWCV CHQEAPATSP RKLNLEWEDC
PPVSDYVVLN VTSDSFQVSW RLNSTQNHTF HVRVYRGMEL LRSARTQSQA LAVAGLEAGV
LYRVKTSYQG CGADVSTTLT IKTNAQVFEV TIKIVNHNLT EKLLNRSSVE YQDFSRQLLH
EVESSFPPVV SDLYRSGKLR MQIVSLQAGS VVVRLKLTVQ DPGFPMGIST LAPILQPLLA
STVFQIDRQG TRVQDWDECV DSAEHDCSPA AWCINLEGSY TCQCRTTRDA TPSRAGRACE
GDLVSPMGGG LSAATGVTVP GLGTGTAALG LENFTLSPSP GYPQGTPAAG QAWTPEPSPR
RGGSNVVGYD RNNTGKGVEQ EVPSTAPGLG MDQGSPSQVN PSQGSPSQGS LRQESTSQAS
PSQRSTSQGS PSQVNPSQGS TSHANSSQGS PSQGSPSQES PSQGSTSQAS PSHRNTIGVI
GTTSSPKATG STHSFPPGAT DGPLALPGQL QGNSIMEPPS WPSPTEDPTG HFLWHATRST
RETLLNPTWL RNEDSGPSGS VDLPLTSTLT ALKTPACVPV SIGRIMVSNV TSTGFHLAWE
ADLAMDSTFQ LTLTSMWSPA VVLETWNTSV TLSGLEPGVL HLVEIMAKAC GKEGARAHLK
VRTAARKLIG KVRIKNVRYS ESFRNASSQE YRDFLELFFR MVRGSLPATM CQHMDAGGVR
MEVVSVTNGS IVVEFHLLII ADVDVQEVSA AFLTAFQTVP LLEVIRGDTF IQDYDECERK
EDDCVPGTSC RNTLGSFTCS CEGGAPDFPV EYSERPCEGD SPGNETWATS PERPLTTAGT
KAAFVQGTSP TPQGLPQRLN LTGAVRVLCE IEKVVVAIQK RFLQQESIPE SSLYLSHPSC
NVSHSNGTHV LLEAGWSECG TLMQSNMTNT VVRTTLRNDL SQEGIIHHLK ILSPIYCAFQ
NDLLTSSGFT LEWGVYTIIE DLHGAGNFVT EMQLFIGDSP IPQNYSVSAS DDVRIEVGLY
RQKSNLKVVL TECWATPSSN ARDPITFSFI NNSCPVPNTY TNVIENGNSN KAQFKLRIFS
FINDSIVYLH CKLRVCMESP GATCKINCNN FRLLQNSETS ATHQMSWGPL IRSEGEPPHA
EAGLGAGYVV LIVVAIFVLV AGTATLLIVR YQRMNGRYNF KIQSNNFSYQ VFYE*
speed 0.93 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