Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999918258255 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000400424
Genbank transcript ID NM_001199528
UniProt peptide Q5DID0
alteration type single base exchange
alteration region intron
DNA changes g.48336C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 172
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
221272TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
585585CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 4159
theoretical NMD boundary in CDS 3712
length of CDS 3741
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
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 ELQGNSIMEP 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 N/A
speed 0.59 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