Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999853307651      (explain)
Summary
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:44374154C>TN/A show variant in all transcripts   IGV
HGNC symbol LRRC37A
Ensembl transcript ID ENST00000496930
Genbank transcript ID N/A
UniProt peptide A6NMS7
alteration type single base exchange
alteration region intron
DNA changes g.4056C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Variant was neither found in ExAC nor 1000G.
Search ExAC.
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.020
0.5230.001
(flanking)0.0580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -91) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased4067wt: 0.24 / mu: 0.35wt: TGGGGTTTACCATCACTCCAGAATCCAAGACAGAGGTTGAA
mu: TGGGGTTTATCATCACTCCAGAATCCAAGACAGAGGTTGAA		 ccag|AATC
Donor increased4061wt: 0.34 / mu: 0.40wt: CCATCACTCCAGAAT
mu: TCATCACTCCAGAAT		 ATCA|ctcc
distance from splice site 2759
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
135SIGNALPotential.might get lost (downstream of altered splice site)
361582TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
5858CONFLICTE -> D (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
296296CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
349349CONFLICTP -> S (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
370370CONFLICTP -> S (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
377377CONFLICTP -> L (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
406406CONFLICTA -> D (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
440440CONFLICTT -> A (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
552552CONFLICTT -> I (in Ref. 1; CAH18088).might get lost (downstream of altered splice site)
558558CONFLICTK -> M (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
630630CONFLICTP -> A (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
776776CONFLICTR -> H (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
785785CONFLICTR -> Q (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
866887REPEATLRR 1.might get lost (downstream of altered splice site)
890911REPEATLRR 2.might get lost (downstream of altered splice site)
914935REPEATLRR 3.might get lost (downstream of altered splice site)
938959REPEATLRR 4.might get lost (downstream of altered splice site)
965986REPEATLRR 5.might get lost (downstream of altered splice site)
10791079CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12551255CONFLICTT -> A (in Ref. 1; CAH18088 and 3; AAH40501).might get lost (downstream of altered splice site)
12881288CONFLICTR -> G (in Ref. 1; CAH18088).might get lost (downstream of altered splice site)
13841384CONFLICTE -> G (in Ref. 3; AAH40501).might get lost (downstream of altered splice site)
15831603TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
16041700TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
16931693CONFLICTE -> G (in Ref. 3; AAH40501).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 1575 / 1575
chromosome 17
strand 1
last intron/exon boundary 3743
theoretical NMD boundary in CDS 2118
length of CDS 2217
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)		 4056
chromosomal position
(for ins/del: last normal base / first normal base)		 44374154
original gDNA sequence snippet ACCTTTGGATCTGGGGTTTACCATCACTCCAGAATCCAAGA
altered gDNA sequence snippet ACCTTTGGATCTGGGGTTTATCATCACTCCAGAATCCAAGA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQFLHKLILN HNPLTTVEDP YLFKLPALKY LDMGTTLVPL TTLKNILMMT VELEKLILPS
HMACCLCQFK NSIEAVCKTV KLHCNSACLT NTTHCPEEAS VGNPEGAFMK VLQARKNYTS
TELIVEPEEP SDSSGINLSG FGSEQLDTND ESDFISTLSY ILPYFSAVNL DVKSLLLPFI
KLPTTGNSLA KIQTVGQNRQ RVKRVLMGPR SIQKRHFKEV GRQSIRREQG AQASVENAAE
EKRLTSPAPR EVEQPHTQQG PEKLAGNAVY TKPSFTQEHK AAVSVLKPFS KGTPSTSSPA
KALPQVRDRS KDLTHAISIL ESAKARVTNT KTSKPIVHAR KKYRFHKTRS HVTHRTTKVK
KSPKVRKKSY LSRLMLANRL PFSAAKSLIN SPSQGAFSSL GDLSPQENPF LEVSALSEHF
IEKNNTKHTT ARNAFEENDF MENTNMPEGT ISENTNYNHP PEADSAGTAF NLGPTVKQTE
TKWEYNNVGT DLSPEPKSFN YPLLSSPGDQ FEIQLTQQLQ SLIPNNNVRR LIAHVIRTLK
MDCSGAHVQV TCAKLISRTG HLMKLLSGQQ EVKASKIEWD TDQWKIENYI NESTEAQSEQ
KEKSLELKKE VPGYGYTDKL ILALIVTGIL TILIILFCLI VICCHRRSLQ EDEEGFSRGI
FRFLPWRGCS SRRESQDGLS SFGQPLWFKD LYKPLSATRI NNHAWKLHKK SSNEDKILNR
DPGDSEAPTE EEESEALP*
mutated AA sequence N/A
speed 1.05 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