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 ENST00000408989
Genbank transcript ID NM_173568
UniProt peptide Q5DID0
alteration type single base exchange
alteration region CDS
DNA changes c.2071C>G
cDNA.2071C>G
g.48336C>G
AA changes R691G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 691
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      691QGSPSQVNPSQRSTSHANSSQGSP
mutated  not conserved    691QGSPSQVNPSQGSTSHANSSQGS
Ptroglodytes  not conserved  ENSPTRG00000013936  686QGSPSQESPSQGSPSHANSSQGS
Mmulatta  not conserved  ENSMMUG00000018057  691QGSPSEVNPSQGSTSQGSPSEGS
Fcatus  not conserved  ENSFCAG00000012699  627-GGSGPVGKDKNSTRQG-LEEGA
Mmusculus  all conserved  ENSMUSG00000054134  675PWAPGQTHGTHQGTTDAPLHTTR
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 4341 / 4341
position (AA) of stopcodon in wt / mu AA sequence 1447 / 1447
position of stopcodon in wt / mu cDNA 4341 / 4341
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 1 / 1
chromosome 21
strand 1
last intron/exon boundary 4363
theoretical NMD boundary in CDS 4312
length of CDS 4341
coding sequence (CDS) position 2071
cDNA position
(for ins/del: last normal base / first normal base)		 2071
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 MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA VQTSYTSYVS
CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL GLYCVLPLNQ SGQFTSRPGA
CPAEGPEPST SPCSLDIDCP GLEKCCPWSG GRYCMAPAPQ APERDPVGSW YNVTILVKMD
FKELQQVDPR LLNHMRLLHS LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV
ADVSTLLGDI AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM ELLRSARTQS
QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF EVTIKIVNHN LTEKLLNRSS
VEYQDFSRQL LHEVESSFPP VVSDLYRSGK LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI
STLAPILQPL LASTVFQIDR QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR
DATPSRAGRA CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQEVPSTAPG LGMDQGSPSQ VNPSQGSPSQ
GSLRQESTSQ ASPSQRSTSQ GSPSQVNPSQ RSTSHANSSQ GSPSQGSPSQ ESPSQGSTSQ
ASPSHRNTIG VIGTTSSPKA TGSTHSFPPG ATDGPLALPG QLQGNSIMEP PSWPSPTEDP
TGHFLWHATR STRETLLNPT WLRNEDSGPS GSVDLPLTST LTALKTPACV PVSIGRIMVS
NVTSTGFHLA WEADLAMDST FQLTLTSMWS PAVVLETWNT SVTLSGLEPG VLHLVEIMAK
ACGKEGARAH LKVRTAARKL IGKVRIKNVR YSESFRNASS QEYRDFLELF FRMVRGSLPA
TMCQHMDAGG VRMEVVSVTN GSIVVEFHLL IIADVDVQEV SAAFLTAFQT VPLLEVIRGD
TFIQDYDECE RKEDDCVPGT SCRNTLGSFT CSCEGGAPDF PVEYSERPCE GDSPGNETWA
TSPERPLTTA GTKAAFVQGT SPTPQGLPQR LNLTGAVRVL CEIEKVVVAI QKRFLQQESI
PESSLYLSHP SCNVSHSNGT HVLLEAGWSE CGTLMQSNMT NTVVRTTLRN DLSQEGIIHH
LKILSPIYCA FQNDLLTSSG FTLEWGVYTI IEDLHGAGNF VTEMQLFIGD SPIPQNYSVS
ASDDVRIEVG LYRQKSNLKV VLTECWATPS SNARDPITFS FINNSCPVPN TYTNVIENGN
SNKAQFKLRI FSFINDSIVY LHCKLRVCME SPGATCKINC NNFRLLQNSE TSATHQMSWG
PLIRSEGEPP HAEAGLGAGY VVLIVVAIFV LVAGTATLLI VRYQRMNGRY NFKIQSNNFS
YQVFYE*
mutated AA sequence MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA VQTSYTSYVS
CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL GLYCVLPLNQ SGQFTSRPGA
CPAEGPEPST SPCSLDIDCP GLEKCCPWSG GRYCMAPAPQ APERDPVGSW YNVTILVKMD
FKELQQVDPR LLNHMRLLHS LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV
ADVSTLLGDI AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM ELLRSARTQS
QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF EVTIKIVNHN LTEKLLNRSS
VEYQDFSRQL LHEVESSFPP VVSDLYRSGK LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI
STLAPILQPL LASTVFQIDR QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR
DATPSRAGRA CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQEVPSTAPG LGMDQGSPSQ VNPSQGSPSQ
GSLRQESTSQ ASPSQRSTSQ GSPSQVNPSQ GSTSHANSSQ GSPSQGSPSQ ESPSQGSTSQ
ASPSHRNTIG VIGTTSSPKA TGSTHSFPPG ATDGPLALPG QLQGNSIMEP PSWPSPTEDP
TGHFLWHATR STRETLLNPT WLRNEDSGPS GSVDLPLTST LTALKTPACV PVSIGRIMVS
NVTSTGFHLA WEADLAMDST FQLTLTSMWS PAVVLETWNT SVTLSGLEPG VLHLVEIMAK
ACGKEGARAH LKVRTAARKL IGKVRIKNVR YSESFRNASS QEYRDFLELF FRMVRGSLPA
TMCQHMDAGG VRMEVVSVTN GSIVVEFHLL IIADVDVQEV SAAFLTAFQT VPLLEVIRGD
TFIQDYDECE RKEDDCVPGT SCRNTLGSFT CSCEGGAPDF PVEYSERPCE GDSPGNETWA
TSPERPLTTA GTKAAFVQGT SPTPQGLPQR LNLTGAVRVL CEIEKVVVAI QKRFLQQESI
PESSLYLSHP SCNVSHSNGT HVLLEAGWSE CGTLMQSNMT NTVVRTTLRN DLSQEGIIHH
LKILSPIYCA FQNDLLTSSG FTLEWGVYTI IEDLHGAGNF VTEMQLFIGD SPIPQNYSVS
ASDDVRIEVG LYRQKSNLKV VLTECWATPS SNARDPITFS FINNSCPVPN TYTNVIENGN
SNKAQFKLRI FSFINDSIVY LHCKLRVCME SPGATCKINC NNFRLLQNSE TSATHQMSWG
PLIRSEGEPP HAEAGLGAGY VVLIVVAIFV LVAGTATLLI VRYQRMNGRY NFKIQSNNFS
YQVFYE*
speed 1.03 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