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 ENST00000408910
Genbank transcript ID NM_001004416
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)
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 1 / 1
chromosome 21
strand 1
last intron/exon boundary 3979
theoretical NMD boundary in CDS 3928
length of CDS 3957
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 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 EQELQGNSIM EPPSWPSPTE DPTGHFLWHA
TRSTRETLLN PTWLRNEDSG PSGSVDLPLT STLTALKTPA CVPVSIGRIM VSNVTSTGFH
LAWEADLAMD STFQLTLTSM WSPAVVLETW NTSVTLSGLE PGVLHLVEIM AKACGKEGAR
AHLKVRTAAR KLIGKVRIKN VRYSESFRNA SSQEYRDFLE LFFRMVRGSL PATMCQHMDA
GGVRMEVVSV TNGSIVVEFH LLIIADVDVQ EVSAAFLTAF QTVPLLEVIR GDTFIQDYDE
CERKEDDCVP GTSCRNTLGS FTCSCEGGAP DFPVEYSERP CEGDSPGNET WATSPERPLT
TAGTKAAFVQ GTSPTPQGLP QRLNLTGAVR VLCEIEKVVV AIQKRFLQQE SIPESSLYLS
HPSCNVSHSN GTHVLLEAGW SECGTLMQSN MTNTVVRTTL RNDLSQEGII HHLKILSPIY
CAFQNDLLTS SGFTLEWGVY TIIEDLHGAG NFVTEMQLFI GDSPIPQNYS VSASDDVRIE
VGLYRQKSNL KVVLTECWAT PSSNARDPIT FSFINNSCPV PNTYTNVIEN GNSNKAQFKL
RIFSFINDSI VYLHCKLRVC MESPGATCKI NCNNFRLLQN SETSATHQMS WGPLIRSEGE
PPHAEAGLGA GYVVLIVVAI FVLVAGTATL LIVRYQRMNG RYNFKIQSNN FSYQVFYE*
mutated AA sequence N/A
speed 0.83 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