Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:

Currentness:

MLC1 C171F

(MLC1 Cys171Phe)

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Variant evidence
Computational	1	Variant Effect Predictor (Ensembl ): SIFT=deleterious(0); PolyPhen=possibly_damaging(0.479); Condel=deleterious(0.778) Mutation Tasting Prediction: Polymorphism, P value: 9.773374e-06; protein features (might be) affected. PolyPhen: Possibly damaging 0.517 SIFT: Tolerated 0.27 GVGD: GV 179.53; GD 45.63; Class C0 Multi-alignment of Q15049.5 [Homo sapiens] with: XP_002831334.1 [Pongo abelii] XP_003281505.1 [Nomascus leucogenys] XP_001111622.1 [Macaca fascicularis] EDL04387.1 [Mus musculus] BAC65472.1 [Mus musculus] NP_573504.1 [Mus musculus] BAC31643.1 [Mus musculus] NP_001101575.1 [Rattus norvegicus] XP_002723271.1 [Oryctolagus cuniculus] XP_848790.1 [Canis familiaris]

Functional	-

Case/Control	-

Familial	-


Clinical importance
Severity	-

Treatability	-

Penetrance	-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

A @ chr22:50515843: 10.6% (1135/10758) in EVS
A @ chr22:48857969: 10.2% (13/128) in GET-Evidence
Frequency shown in summary reports: 10.6% (1135/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs6010260
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the MLC1 gene
Megalencephalic Leukoencephalopathy with Subcortical Cysts
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLC1

PolyPhen-2

Score: 0.04 (benign)

Web search results (12 hits -- see all)

Sequence diversity of KIAA0027/MLC1: are megalencephalic ...
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
www.ncbi.nlm.nih.gov/pubmed/12497630
Sequence diversity of KIAA0027/MLC1: are megalencephalic ...
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
www.medscape.com/medline/abstract/12497630
Sequence diversity of KIAA0027/MLC1: are megalencephalic ...
KIAA0027 • megalencephalic leukoencephalopathy • MLC1 • catatonia • schizophrenia • SNP ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
www3.interscience.wiley.com/journal/102519806/abstract
Catatonia :: genetics
BioInfoBank Library :: Catatonia :: genetics :: [Dual manifestation of catatonic reaction ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
lib.bioinfo.pl/meid:128952
Lichtner, P (Peter)
Lichtner, P (Peter) :: Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Mutations in LRRK2 cause ...
lib.bioinfo.pl/auid:1400940

Other in silico analyses

NBLOSUM100 score = 4
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Jul 12 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 8 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Dec 27 2009 Genome Importing Robot added variant view

MLC1 C171F - GET-Evidence