Full data view for gene SLC7A7

Information The variants shown are described using the NM_001126105.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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AscendingDNA change (cDNA)     

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VIP     

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+/+ 02c c.-44_499del - r.? p.? Both (homozygous) g.23282109_23284530del - 197del543 (cDNA): removes the first methionine at position 242 as well as 167 codons downstream; c.-45_499del p.M1_C167del - SLC7A7_000001 1 Italian LPI family (hom) PubMed: Bosrsani et al. 1999 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.1A>C - r.(1a>c) p.? Both (homozygous) g.23282607T>G - 242A>C: M1L - SLC7A7_000002 1 Italian (Puglia) LPI family (hom) PubMed: Sperandeo et al. 2000 rs121908676 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.14C>T - r.(14c>u) p.(Thr5Ile) Unknown g.23282594G>A - - - SLC7A7_000003 1 Italian LPI family (hom); Variants c.14C>T and c.158C>T segregate together so it is unclear which is (or both are) causative PubMed: Sperandeo et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.105_107delGGA - r.(105_107delgga) p.(Glu36del) Parent #1 g.23282501_23282503delTCC - deletion of nucleotides 104–106 from the first methionine of the SLC7A7 cDNA: E36del; c.104_106delGGA p.E36del - SLC7A7_000004 1 Greek LPI patient (com-het); Functional studies: mutated protein failed to show transport activity PubMed: Sperandeo et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.149T>A - r.149u>a p.(Met50Lys) Paternal (confirmed) g.23282459A>T - 435T>A: M50K; p.M50K (c.149T>A) - SLC7A7_000005 1 Italian LPI family (het); Functional studies confirmed disease-causative role PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.158C>T - r.(158c>u) p.(Ser53Leu) Unknown g.23282450G>A - - - SLC7A7_000052 1 Italian LPI family (hom); Variants c.14C>T and c.158C>T segregate together so it is unclear which is (or both are) causative PubMed: Sperandeo et al. 2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.161G>T - r.161g>u p.(Gly54Val) Both (homozygous) g.23282447C>A - 447G>T (exon 3): G54V - SLC7A7_000006 1 Latvian and 1 Estonian (both hom) LPI family; Functional analysis: loss of function PubMed: Mykkänen et al. 2000 rs121908677 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 03 c.215_218delCTCT - r.(215_218delcucu) p.(Ser72Trpfs*97) Both (homozygous) g.23282390_23282393delAGAG - 455delCTCT: Frameshift after Leu71, termination at codon 167; c.211_214delCTCT p.S72WfsX97 - SLC7A7_000009 1 Italian (Molise) LPI family (hom) PubMed: Sperandeo et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/? 03 c.220_222dupGTC - r.(?) p.(Val74dup) Unknown g.23282386_23282388dup - c.223insGTC, p.Val74_Ile75insVal - SLC7A7_000054 2 Turkish patients (1 hom and 1 het) with LPI PubMed: Güzel-Ozantürk et al. 2013 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.235G>A - r.(235g>a) p.(Gly79Arg) Both (homozygous) g.23282373C>T - 235G>A - SLC7A7_000053 1 Malaysian LPI family (hom) PubMed: Habib et al. 2013 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 03 c.254_255delTT - r.254_255deluu p.(Phe85Trpfs*13) Both (homozygous) g.23282353_23282354delAA - 539delTT (exon 3) Frameshift after V84; c.253_254delTT p.F85WfsX13 - SLC7A7_000010 1 Turkish LPI family (hom) PubMed: Mykkänen et al. 2000 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.282_283insTGG - r.(?) p.(Gly94_Thr95insTrp) Unknown g.23282325_23282326insCCA - c.283insTGG, p.Glu94_Thr95insTrp - SLC7A7_000055 1 Turkish patient with LPI (het) PubMed: Güzel-Ozantürk et al. 2013 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.346_349delGCTT - r.(?) p.(Ala116Serfs*53) Both (homozygous) g.23282259_23282262delAAGC - c.344_347delTTGC, p.Leu115LeufsX53 - SLC7A7_000056 1 Turkish patient (hom) with LPI PubMed: Güzel-Ozantürk et al. 2013 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.371T>C - r.(370u>c) p.(Leu124Pro) Parent #1 g.23282237A>G - c.370T>C p.L124P - SLC7A7_000007 2 Greek LPI families (com-het) PubMed: Sperandeo et al. 2008, PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.418G>C - r.(418g>c) p.(Ala140Pro) Parent #1 g.23282190C>G - c.418G>C p.A140P - SLC7A7_000008 1 Italian LPI family (com-het) PubMed: Sperandeo_2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.454T>C - r.(454u>c) p.(Phe152Leu) Parent #1 g.23282154A>G - from the first methionine, 453T>C: F152L - SLC7A7_000011 1 Greek LPI patient (com-het); Functional studies: mutated protein showed moderately reduced transport activity PubMed: Sperandeo 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i03 c.499+1G>A - r.-41_499del p.? Parent #1 g.23282108C>T - IVS3 +1G>A in donor of intron 3; IVS3 +1G>A: exon 3 skipping - SLC7A7_000012 2 Japanese LPI families (com-het) PubMed: Sperandeo et al. 2000, PubMed: Kamada et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i03- c.500-4294_1908+1028del - r.? p.? Paternal (confirmed) g.23241419_23253554del - c.500-4294_1908+1028 del12136: p.L168_N511delfsX19 - SLC7A7_000016 1 Spanish LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+/+ i03-i04 c.500-?_625+?del - r.500_625del p.(Cys167*) Both (homozygous) g.(?_23249135)_(23249260_?)del - 786del125: Frameshift after I166 (EX4); c.499+?_629-?, genomic rearrangement causing the deletion of the entire exon 4 at the cDNA level; c.500-?_625+?del: p.C167_G209delinsX - SLC7A7_000013 1 Pakistani LPI family (hom). PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i03-i05 c.500-?_770+?del - r.500_770del p.(Cys167*) Maternal (confirmed) g.(?_23248002)_(23249260_?)del - 5.3-kbp Alu–mediated deletion from intron 2 to intron 4: exons 3 and 4 deletion. - SLC7A7_000014 1 Japanese LPI family (com-het); Deletion from intron 3 to intron 5 > deletion of exons 4 and 5 PubMed: Kamada et al. 2001 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i03-i05 c.500-?_770+?del - r.500_770del p.(Cys167*) Parent #1 g.(?_23248002)_(23249260_?)del - IVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 deletion in cDNAIVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 deletion in cDNAIVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 del - SLC7A7_000014 2 Japanese LPI families (1 hom and 1 com-het) PubMed: Shoji et al. 2002 - SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.545dupT - r.(545dupu) p.(Val183Glyfs*9) Both (homozygous) g.23249215dup - 786insT: Frameshift after Leu182, termination at codon 190; c.545_546insT - SLC7A7_000017 1 Italian (Sicilia) LPI family (hom) PubMed: Sperandeo et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.563C>T - r.563c>u p.(Thr188Ile) Paternal (confirmed) g.23249197G>A - 849C>T: T188I; p.T188I (c.563C>T) - SLC7A7_000018 1 Greek LPI family (com-het); Functional studies confirmed disease-causative role PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.571A>G - r.(571a>g) p.(Lys191Glu) Parent #1 g.23249189T>C - c.571A>G p.K191E - SLC7A7_000019 1 German LPI family (com-het) PubMed: Sperandeo_2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.622C>T - r.(622c>u) p.(Gln208*) Parent #1 g.23249138G>A - c.622C>T p.Q208X - SLC7A7_000020 1 German LPI family (com-het) PubMed: Sperandeo_2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i04 c.625+1G>A - r.500_625del p.Cys167* Unknown g.23249134C>T - 911+1G>A; IVS4+1G>A - SLC7A7_000021 1 Turkish (hom) and 1 Korean (hom) LPI family, 3 Japanese (com-het) LPI families; Mutation causes exon 4 skipping PubMed: Mykkanen et al. 2000, PubMed: Noguchi et al.v2000, PubMed: Ko et al. 2012 - SUMMARY record yes 0/50 JAP CON - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i04 c.625+1G>C - r.spl? p.? Paternal (confirmed) g.23249134C>G - c.625+1G>C: p.C167_G209delinsX - SLC7A7_000022 1 English/Argentinean LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 05 c.713C>T - r.713c>u p.(Ser238Phe) Parent #1 g.23248059G>A - TCC>TTC: S238F - SLC7A7_000023 8 Japanese LPI families (3 hom and 5 com-het) PubMed: Shoji et al. 2002 - SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
+/+ 05 c.726G>A - r.(726g>a) p.(Trp242*) Both (homozygous) g.23248046C>T - 967G>A: W242X; 1012G>A: W242X - SLC7A7_000024 2 Italian, 1 North African and 3 Moroccan LPI families (all hom) PubMed: Sperandeo et al. 2000, PubMed: Mykkanen et al. 2000 rs121908679 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 05 c.753G>T - r.(753g>u) p.(Glu251Asp) Parent #1 g.23248019C>A - c.753G>T p.E251D - SLC7A7_000025 1 Italian LPI family (hom) PubMed: Sperandeo_2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i05- c.771-848_1908+718del4647 - r.? p.? Both (homozygous) g.23241729_23246375del4647 - c.771-848_1908+718del4647: p.N258_N511delinsX - SLC7A7_000026 1 Spanish LPI family (hom) PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? 06 c.782T>C - r.(782u>c) p.(Leu261Pro) Parent #1 g.23245516A>G - c.782T>C p.L261P - SLC7A7_000027 1 Italian LPI family (com-het) PubMed: Sperandeo_2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.820dupT - r.(820dupu) p.(Tyr274Leufs*21) Maternal (confirmed) g.23245478dup - c.820dupT: p.Y274fsX21 - SLC7A7_000028 1 English/Argentinean LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+?/+? i06 c.894+1G>T - r.spl? p.? Parent #1 g.23245403C>A - IVS6 +1G>T in donor of intron 6: no RNA studies - SLC7A7_000029 1 Japanese LPI family (com-het) PubMed: Sperandeo et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? i06 c.895-2A>G - r.spl? p.? Both (homozygous) g.23245147T>C - A-to-G transition in a splice acceptor sequence 6 (IVS6-2A G) - SLC7A7_000031 1 Lithuanian LPI patient (hom) PubMed: Cimbalistiene et al. 2007 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i06 c.895-2A>T - r.895_904delacuuuugcag p.Thr299Ilefs*10 Both (homozygous) g.23245147T>A - genomic change 1181-2A>T leads to alternative splicing: c.1181delACTTTTGCAG - SLC7A7_000030 Finnish Major LPI mutation: 35 Finnish LPI patients (hom); Functional analysis: loss of function PubMed: Torrens et al. 1999, PubMed: Bosrsani et al. 1999 rs146582474 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.895-2A>T ACMG 5 r.spl? p.? Both (homozygous) g.23245147T>A - - - SLC7A7_000030 - Trujillano et al., submitted - Germline - - - 0 - DNA SEQ, SEQ-NG - - LPI - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/+ 07 c.998G>T - r.[998g>a, 895_998del, 895_998del; 1096_1245del, 771_998del; 1096_1245del] p.[Arg333Met, Thr299Alafs*13, Thr299Alafs*13, Asn258_Arg333del; Gly366_Lys415del] Both (homozygous) g.23245042C>A - p.R333M (c.997G>T) - SLC7A7_000032 1 Turkish LPI family (hom); Several different transcripts: a full length transcript with the R333M mutation and three shorter transcripts with skipping of exon 7 or exons 7 and 9 or exons 6, 7 and 9. PubMed: Sperandeo et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? i07 c.998+1G>T - r.spl? p? Parent #1 g.23245041C>A - 1284+1G>T - SLC7A7_000033 3 Japanese LPI families (all com-het) PubMed: Shoji et al. 2002 - SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
+/+ 08 c.1001T>G - r.1001u>g p.Leu334Arg Parent #1 g.23244747A>C - c.1287T>G: L334R - SLC7A7_000034 1 Spanish LPI family (com-het) and 1 Chilean sibpair (hom) with LPI; Mutation nearly abolished (approximately 10% residual activity) sodium-independent L-arginine and sodium-dependent L-leucine transport activity PubMed: Torrens et al. 1999, PubMed: Font-Llitjos et al. 2009 rs72552272 SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 08 c.1005_1008delCTTT - r.1005_1008delcuuu p.Phe335Leufs*15 Paternal (confirmed) g.23244740_23244743delAAAG - 1291delCTTT: framesift - SLC7A7_000035 3 Spanish LPI families (1 hom and 2 com-het) and 1 Japanese LPI family (com-het) PubMed: Torrens et al. 1999, PubMed: Mykkanen et al. 2000, PubMed: Shoji et al. 2002 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1013G>A - r.1013g>a p.(Gly338Asp) Both (homozygous) g.23244735C>T - 1299G→A (exon 8): G338D - SLC7A7_000036 1 Swedish LPI family (hom) PubMed: Mykkanen et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1093A>T - r.(1093a>u) p.(Asn365Tyr) Parent #1 g.23244655T>A - c.1093A>T p.N365Y - SLC7A7_000037 1 German LPI family (hom) PubMed: Sperandeo_2008 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1098dupT - r.(?) p.(Ile367Tyrfs*17) Both (homozygous) g.23243710dup - c.1099insT, p.Ile367TyrfsX16 - SLC7A7_000057 2 Turkish patients (hom) with LPI PubMed: Güzel-Ozantürk et al. 2013 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1147_1151dup - r.(1147_1151dupaacua) p.(Tyr384*) Both (homozygous) g.23243657_23243661dup - 1438duplAACTA (exon 9): Y384X - SLC7A7_000038 1 Canadian LPI family (het) PubMed: Mykkanen et al. 2000 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1158C>A - r.(1158c>a) p.(Ser386Arg) Both (homozygous) g.23243650G>T - 1399C>A: S386R - SLC7A7_000039 2 Italian (Calabria) LPI families (hom) PubMed: Sperandeo et al. 2000, PubMed: Sperandeo et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1185_1188delTTCT - r.(1185_1188deluucu) p.(Ser396Leufs*122) Both (homozygous) g.23243620_23243623delAGAA - 1425delTTCT: Frameshift after Leu395, termination at codon 516; 1471delTTCT: Frameshift after L395; c.1185_1188delTTCT: p.S396fsX121 - SLC7A7_000040 1 Italian, 1 Tunisian, 1 German and 1 Spanish LPI family (all hom) and 1 French-Algerian LPI family 1 (com-het); Functional studies confirmed disease-causative role PubMed: Sperandeo et al. 2000, PubMed: Mykkanen et al. 2000, PubMed: Sperandeo et al. 2005, PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 09 c.1228C>T - r.1228c>u p.(Arg410*) Both (homozygous) g.23243580G>A - CGA>TGA: R410X - SLC7A7_000041 12 Japanese LPI families (7 hom and 5 com-het) and 1 Moroccan LPI family (hom) PubMed: Noguchi et al.v2000, PubMed: Shoji et al. 2002, PubMed: Font-Llitjos et al. 2009 rs121908678 SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1262delC - r.1262delc p.(Pro421Argfs*98) Both (homozygous) g.23243309delG - 1548delC (exon 10) Frameshift after F420 - SLC7A7_000042 1 Arabic LPI family (hom); Functional analysis: loss of function PubMed: Mykkanen et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.1273T>C - r.(1273u>c) p.(Cys425Arg) Maternal (confirmed) g.23243298A>G - c.1273T>C: p.C425R - SLC7A7_000043 1 Spanish LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1344delC - r.1344delc p.(Ile449Leufs*70) Parent #1 g.23243227delG - 1630delC: premature stop codon at nucleotide 1839 - SLC7A7_000044 1 Japanese LPI family (com-het) PubMed: Shoji et al. 2002 - SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1371C>A - r.1371c>a p.(Tyr457*) Parent #1 g.23243200G>T - 1657C>A: Y457X; p.Y457X (c.1371C>A) - SLC7A7_000045 1 French-Algerian and 1 Greek LPI family (both com-het) and 1 Moroccan LPI family (hom); Functional studies confirmed disease-causative role PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005, PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1381_1384dupATCA - r.1381_1384dupauca p.Arg462Asnfs*7 Both (homozygous) g.23243187_23243190dup - 1625insATCA: frameshift that disrupts the reading frame at codon 462 and predicts translation termination 13 bp downstream; c.1384_1385insATCA - SLC7A7_000046 4 Italian LPI families (hom) PubMed: Bosrsani et al. 1999, PubMed: Sperandeo et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1387delG - r.1387delg p.(Val463Cysfs*56) Parent #1 g.23243184delC - 1673delG: premature stop codon at nucleotide 1841 - SLC7A7_000047 1 Japanese LPI family (com-het) PubMed: Shoji et al. 2002 - SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1402C>T - r.(1402c>u) p.(Arg468*) Maternal (confirmed) g.23243169G>A - c.1402C>T: p.R468X - SLC7A7_000048 1 Greek sibpair (com-het) with LPI PubMed: Font-Llitjos et al. 2009 - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1417C>T - r.1421c>t p.(Arg473*) Both (homozygous) g.23243154G>A - 1707C→T (exon 11): R473X - SLC7A7_000049 1 Australian LPI family (hom) PubMed: Mykkanen et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1460delG - r.1460delg p.(Cys487Leufs*32) Both (homozygous) g.23242895delC - 1746delG (exon 11) Frameshift after L486 - SLC7A7_000050 1 Dutch and 1 Norwegian LPI family (both hom) PubMed: Mykkanen et al. 2000 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.1465T>C - r.1465u>c p.(Ser489Pro) Parent #1 g.23242890A>G - TCA>CCA: S489P - SLC7A7_000051 1 Japanese LPI family (com-het) PubMed: Shoji et al. 2002 - SUMMARY record yes 0/50 JAP CON - - - - - - - - - - - - - - - - - - - - -
Legend