LOVD - Variant listings for SMPD1

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Restriction-site Hide Restriction-site column Descending
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- c.107T>C - r.(?) p.(Val36Ala) SMPD1_00001 submitted through SIB; ExPASy VAR_038191; dbSNP-rs1050228 - PubMed 22613662 abstract DNA SEQ - -
- c.152A>T - r.(?) p.(Asp51Val) SMPD1_00010 submitted through SIB; ExPASy VAR_060870 - PubMed 12369017 abstract DNA SEQ - -
- c.282C>G - r.(?) p.(Cys94Trp) SMPD1_00011 submitted through SIB; ExPASy VAR_060871 - PubMed 12369017 abstract DNA SEQ - -
- c.314T>C - r.(?) p.(Leu105Pro) SMPD1_00048 submitted through SIB; ExPASy VAR_060872 - PubMed 15221801 abstract DNA SEQ - -
- c.395T>C - r.(?) p.(Val132Ala) SMPD1_00061 submitted through SIB; ExPASy VAR_060873 - PubMed 16010684 abstract DNA SEQ - -
- c.416T>C - r.(?) p.(Leu139Pro) SMPD1_00012 submitted through SIB; ExPASy VAR_060874 - PubMed 12369017 abstract DNA SEQ - -
- c.475T>C - r.(?) p.(Cys159Arg) SMPD1_00013 submitted through SIB; ExPASy VAR_011387 - PubMed 12369017 abstract DNA SEQ - -
- c.502G>A p.Gly166Arg r.(?) p.(Gly168Arg) SMPD1_00063 submitted through SIB; ExPASy VAR_060875 - PubMed 15877209 abstract DNA SEQ - -
- c.533T>A p.Ile176Asn r.(?) p.(Ile178Asn) SMPD1_00064 submitted through SIB; ExPASy VAR_060876 - PubMed 16472269 abstract DNA SEQ - -
- c.557C>T p.Pro184Leu r.(?) p.(Pro186Leu) SMPD1_00065 submitted through SIB; ExPASy VAR_060877 - PubMed 15877209 abstract DNA SEQ - -
- c.592G>C - r.(?) p.(Ala198Pro) SMPD1_00014 submitted through SIB; ExPASy VAR_060878 - PubMed 12369017 abstract DNA SEQ - -
- c.604C>T - r.(?) p.(Arg202Cys) SMPD1_00015 submitted through SIB; ExPASy VAR_060879 - PubMed 12369017 abstract DNA SEQ - -
- c.631T>C - r.(?) p.(Trp211Arg) SMPD1_00005 submitted through SIB; ExPASy VAR_068435; The mutation results in less than 0.5% of wild-type activity as shown by in vitro expression studies - PubMed 20386867 abstract DNA SEQ - -
- c.679C>A - r.(?) p.(Leu227Met) SMPD1_00016 submitted through SIB; ExPASy VAR_060880 - PubMed 12369017 abstract DNA SEQ - -
- c.680T>C - r.(?) p.(Leu227Pro) SMPD1_00056 submitted through SIB; ExPASy VAR_060881 - PubMed 15241805 abstract DNA SEQ - -
- c.688C>T - r.(?) p.(Arg230Cys) SMPD1_00017 submitted through SIB; ExPASy VAR_060882 - PubMed 12369017 abstract DNA SEQ - -
- c.689G>A p.Arg228His r.(?) p.(Arg230His) SMPD1_00066 submitted through SIB; ExPASy VAR_060883 - PubMed 15877209 abstract DNA SEQ - -
- c.701G>A - r.(?) p.(Gly234Asp) SMPD1_00018 submitted through SIB; ExPASy VAR_060884 - PubMed 12369017 abstract DNA SEQ - -
- c.728C>T p.Ala241Val r.(?) p.(Ala243Val) SMPD1_00067 submitted through SIB; ExPASy VAR_060885 - PubMed 15877209 abstract DNA SEQ - -
- c.730G>A - r.(?) p.(Gly244Arg) SMPD1_00072 submitted through SIB; ExPASy VAR_005058 - PubMed 1618760 abstract DNA SEQ - -
- c.738G>C - r.(?) p.(Trp246Cys) SMPD1_00057 submitted through SIB; ExPASy VAR_060886 - PubMed 15241805 abstract DNA SEQ - -
- c.739G>A
  (Reported 2 times)
- r.(?) p.(Gly247Ser) SMPD1_00019 submitted through SIB; ExPASy VAR_060887 - PubMed 12369017 abstract DNA SEQ - -
- c.741_742delinsGC p.Glu245Gln r.(?) p.(Glu248Gln) SMPD1_00074 submitted through SIB; ExPASy VAR_005059 - PubMed 8664904 abstract DNA SEQ - -
- c.742G>A - r.(?) p.(Glu248Lys) SMPD1_00049 submitted through SIB; ExPASy VAR_060888 - PubMed 15221801 abstract DNA SEQ - -
- c.750C>A - r.(?) p.(Ser250Arg) SMPD1_00020 submitted through SIB; ExPASy VAR_015287 - PubMed 12369017 abstract DNA SEQ - -
- c.757G>C - r.(?) p.(Asp253His) SMPD1_00006 submitted through SIB; ExPASy VAR_068436; The mutation results in loss of activity as shown by in vitro expression studies - PubMed 20386867 abstract DNA SEQ - -
- c.759C>A p.Asp251Glu r.(?) p.(Asp253Glu) SMPD1_00068 submitted through SIB; ExPASy VAR_060889 - PubMed 15877209 abstract DNA SEQ - -
- c.839A>C p.Asp278Ala r.(?) p.(Asp280Ala) SMPD1_00069 submitted through SIB; ExPASy VAR_060890 - PubMed 15877209 abstract DNA SEQ - -
- c.847G>A - r.(?) p.(Ala283Thr) SMPD1_00058 submitted through SIB; ExPASy VAR_060891 - PubMed 15241805 abstract DNA SEQ - -
- c.872G>A - r.(?) p.(Arg291His) SMPD1_00021 submitted through SIB; ExPASy VAR_060892 - PubMed 12369017 abstract DNA SEQ - -
- c.880C>A
  (Reported 2 times)
- r.(?) p.(Gln294Lys) SMPD1_00059 submitted through SIB; ExPASy VAR_060893 - PubMed 15241805 abstract DNA SEQ - -
- c.887G>A - r.(?) p.(Arg296Gln) SMPD1_00050 submitted through SIB; ExPASy VAR_060894 - PubMed 15221801 abstract DNA SEQ - -
- c.911T>C - r.(?) p.(Leu304Pro) SMPD1_00075 submitted through SIB; ExPASy VAR_005060 - PubMed 1391960 abstract DNA SEQ - -
- c.940G>A - r.(?) p.(Val314Met) SMPD1_00007 submitted through SIB; ExPASy VAR_068437; The mutation results in 20% of wild-type activity as shown by in vitro expression studies - PubMed 20386867 abstract DNA SEQ - -
- c.943T>C - r.(?) p.(Tyr315His) SMPD1_00051 submitted through SIB; ExPASy VAR_060895 - PubMed 15221801 abstract DNA SEQ - -
- c.961C>T p.His319Tyr r.(?) p.(His321Tyr) SMPD1_00076 submitted through SIB; ExPASy VAR_015288 - PubMed 12556236 abstract DNA SEQ - -
- c.973C>G - r.(?) p.(Pro325Ala) SMPD1_00022 submitted through SIB; ExPASy VAR_060896 - PubMed 12369017 abstract DNA SEQ - -
- c.995C>G
  (Reported 2 times)
- r.(?) p.(Pro332Arg) SMPD1_00003 submitted through SIB; ExPASy VAR_060897 - PubMed 19050888 abstract DNA SEQ - -
- c.1028T>C p.Leu341Pro r.(?) p.(Leu343Pro) SMPD1_00070 submitted through SIB; ExPASy VAR_060898 - PubMed 15877209 abstract DNA SEQ - -
- c.1076C>A - r.(?) p.(Ala359Asp) SMPD1_00023 submitted through SIB; ExPASy VAR_060899 - PubMed 12369017 abstract DNA SEQ - -
- c.1106A>G - r.(?) p.(Tyr369Cys) SMPD1_00080 submitted through SIB; ExPASy VAR_060900 - PubMed 19405096 abstract DNA SEQ - -
- c.1117C>T p.Pro371Ser r.(?) p.(Pro373Ser) SMPD1_00079 submitted through SIB; ExPASy VAR_015289 - PubMed 12556236 abstract DNA SEQ - -
- c.1133G>A - r.(?) p.(Arg378His) SMPD1_00024 submitted through SIB; ExPASy VAR_060901 - PubMed 12369017 abstract DNA SEQ - -
- c.1133G>T - r.(?) p.(Arg378Leu) SMPD1_00025 submitted through SIB; ExPASy VAR_060902 - PubMed 12369017 abstract DNA SEQ - -
- c.1141T>C - r.(?) p.(Ser381Pro) SMPD1_00026 submitted through SIB; ExPASy VAR_060903 - PubMed 12369017 abstract DNA SEQ - -
- c.1152G>A
  (Reported 2 times)
- r.(?) p.(Met384Ile) SMPD1_00060 submitted through SIB; ExPASy VAR_005061 - PubMed 15241805 abstract DNA SEQ - -
- c.1154A>G - r.(?) p.(Asn385Ser) SMPD1_00073 submitted through SIB; ExPASy VAR_005062 - PubMed 1618760 abstract DNA SEQ - -
- c.1172A>C p.Asn389Thr r.(?) p.(Asn391Thr) SMPD1_00085 submitted through SIB; ExPASy VAR_005063 - PubMed 8680412 abstract DNA SEQ - -
- c.1177T>G - r.(?) p.(Trp393Gly) SMPD1_00086 submitted through SIB; ExPASy VAR_005064 - PubMed 7762557 abstract DNA SEQ - -
- c.1244C>T - r.(?) p.(Ala415Val) SMPD1_00027 submitted through SIB; ExPASy VAR_060905 - PubMed 12369017 abstract DNA SEQ - -
- c.1267C>T - r.(?) p.(His423Tyr) SMPD1_00028 submitted through SIB; ExPASy VAR_015290 - PubMed 12369017 abstract DNA SEQ - -
- c.1268A>G - r.(?) p.(His423Arg) SMPD1_00081 submitted through SIB; ExPASy VAR_060906 - PubMed 19405096 abstract DNA SEQ - -
- c.1280A>G - r.(?) p.(His427Arg) SMPD1_00008 submitted through SIB; ExPASy VAR_068438; The mutation results in loss of activity as shown by in vitro expression studies. It has been found in a patient also carrying p.Arg230His. Although the p.H427R mutant enzyme has no residual activity when expressed in vitro, the p.R230H enzyme has sufficient activity to account for the Niemann-Pick disease type B phenotype of this patient - PubMed 20386867 abstract DNA SEQ - -
- c.1297T>C - r.(?) p.(Cys433Arg) SMPD1_00029 submitted through SIB; ExPASy VAR_060907 - PubMed 12369017 abstract DNA SEQ - -
- c.1301T>C - r.(?) p.(Leu434Pro) SMPD1_00030 submitted through SIB; ExPASy VAR_060908 - PubMed 12369017 abstract DNA SEQ - -
- c.1311G>C - r.(?) p.(Trp437Cys) SMPD1_00031 submitted through SIB; ExPASy VAR_060909 - PubMed 12369017 abstract DNA SEQ - -
- c.1314C>A p.Ser436Arg r.(?) p.(Ser438Arg) SMPD1_00088 submitted through SIB; ExPASy VAR_005065 - PubMed 1301192 abstract DNA SEQ - -
- c.1343A>G - r.(?) p.(Tyr448Cys) SMPD1_00087 submitted through SIB; ExPASy VAR_011388 - PubMed 8693491 abstract DNA SEQ - -
- c.1355T>C - r.(?) p.(Leu452Pro) SMPD1_00052 submitted through SIB; ExPASy VAR_060910 - PubMed 15221801 abstract DNA SEQ - -
- c.1358C>A - r.(?) p.(Ala453Asp) SMPD1_00004 submitted through SIB; ExPASy VAR_068439 - PubMed 19050888 abstract DNA SEQ - -
- c.1361C>T - r.(?) p.(Ala454Val) SMPD1_00032 submitted through SIB; ExPASy VAR_060911 - PubMed 12369017 abstract DNA SEQ - -
- c.1373G>A - r.(?) p.(Gly458Asp) SMPD1_00033 submitted through SIB; ExPASy VAR_060912 - PubMed 12369017 abstract DNA SEQ - -
- c.1394T>C p.Phe463Ser r.(?) p.(Phe465Ser) SMPD1_00077 submitted through SIB; ExPASy VAR_015291 - PubMed 12556236 abstract DNA SEQ - -
- c.1406A>C - r.(?) p.(Tyr469Ser) SMPD1_00082 submitted through SIB; ExPASy VAR_060913 - PubMed 19405096 abstract DNA SEQ - -
- c.1426C>T - r.(?) p.(Arg476Trp) SMPD1_00034 submitted through SIB; ExPASy VAR_060914 - PubMed 12369017 abstract DNA SEQ - -
- c.1430C>T
  (Reported 2 times)
- r.(?) p.(Pro477Leu) SMPD1_00035 submitted through SIB; ExPASy VAR_015292 - PubMed 12369017 abstract DNA SEQ - -
- c.1446C>A - r.(?) p.(Phe482Leu) SMPD1_00036 submitted through SIB; ExPASy VAR_060915 - PubMed 12369017 abstract DNA SEQ - -
- c.1451C>A - r.(?) p.(Ala484Glu) SMPD1_00083 submitted through SIB; ExPASy VAR_060916 - PubMed 19405096 abstract DNA SEQ - -
- c.1460C>T - r.(?) p.(Ala487Val) SMPD1_00037 submitted through SIB; ExPASy VAR_060917 - PubMed 12369017 abstract DNA SEQ - -
- c.1462A>G - r.(?) p.(Thr488Ala) SMPD1_00084 submitted through SIB; ExPASy VAR_060918 - PubMed 19405096 abstract DNA SEQ - -
- c.1468T>A - r.(?) p.(Tyr490Asn) SMPD1_00038 submitted through SIB; ExPASy VAR_060919 - PubMed 12369017 abstract DNA SEQ - -
- c.1486G>A - r.(?) p.(Gly496Ser) SMPD1_00039 submitted through SIB; ExPASy VAR_060920 - PubMed 12369017 abstract DNA SEQ - -
- c.1492C>T - r.(?) p.(Arg498Cys) SMPD1_00040 submitted through SIB; ExPASy VAR_060921 - PubMed 12369017 abstract DNA SEQ - -
- c.1493G>A - r.(?) p.(Arg498His) SMPD1_00054 submitted through SIB; ExPASy VAR_060922 - PubMed 15221801 abstract DNA SEQ - -
- c.1493G>T - r.(?) p.(Arg498Leu) SMPD1_00053 submitted through SIB; ExPASy VAR_005066 - PubMed 15221801 abstract DNA SEQ - -
- c.1548T>G - r.(?) p.(His516Gln) SMPD1_00041 submitted through SIB; ExPASy VAR_060924 - PubMed 12369017 abstract DNA SEQ - -
- c.1550A>T - r.(?) p.(Glu517Val) SMPD1_00042 submitted through SIB; ExPASy VAR_060925 - PubMed 12369017 abstract DNA SEQ - -
- c.1556A>G - r.(?) p.(Tyr519Cys) SMPD1_00055 submitted through SIB; ExPASy VAR_060926 - PubMed 15221801 abstract DNA SEQ - -
- c.1565A>G - r.(?) p.(Asn522Ser) SMPD1_00002 submitted through SIB; ExPASy VAR_068440 - PubMed 22613662 abstract DNA SEQ - -
- c.1575G>C - r.(?) p.(Gln525His) SMPD1_00009 submitted through SIB; ExPASy VAR_068441; The mutation results in 64% of wild-type activity as shown by in vitro expression studies - PubMed 20386867 abstract DNA SEQ - -
- c.1603T>C
  (Reported 2 times)
- r.(?) p.(Trp535Arg) SMPD1_00043 submitted through SIB; ExPASy VAR_060927 - PubMed 12369017 abstract DNA SEQ - -
- c.1615T>C p.Tyr537His r.(?) p.(Tyr539His) SMPD1_00078 submitted through SIB; ExPASy VAR_015293 - PubMed 12556236 abstract DNA SEQ - -
- c.1652T>C - r.(?) p.(Leu551Pro) SMPD1_00044 submitted through SIB; ExPASy VAR_060928 - PubMed 12369017 abstract DNA SEQ - -
- c.1693G>T - r.(?) p.(Asp565Tyr) SMPD1_00062 submitted through SIB; ExPASy VAR_060929 - PubMed 16010684 abstract DNA SEQ - -
- c.1734G>C - r.(?) p.(Lys578Asn) SMPD1_00045 submitted through SIB; ExPASy VAR_060930 - PubMed 12369017 abstract DNA SEQ - -
- c.1735G>A - r.(?) p.(Gly579Ser) SMPD1_00071 submitted through SIB; ExPASy VAR_005067 - PubMed 1718266 abstract DNA SEQ - -
- c.1805G>A - r.(?) p.(Arg602His) SMPD1_00046 submitted through SIB; ExPASy VAR_060932 - PubMed 12369017 abstract DNA SEQ - -
- c.1805G>C - r.(?) p.(Arg602Pro) SMPD1_00047 submitted through SIB; ExPASy VAR_060933 - PubMed 12369017 abstract DNA SEQ - -
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Legend: [ SMPD1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon/Intron numbering. DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) SMPD1 DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code Variant remarks: Variant remarks Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Template: Template Technique: Technique Frequency: frequency in which variant was found; e.g 5/76 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested). NOTE: preferred format is 5/76. Restriction-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.