Report for: Data built from an AQL search 16 rows returned| Mutation | Text | txt |
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| A196T_human-LIPC | p.A196T Ala196Thr c. G>A (p.A174T Ala174Thr in the mature protein without the 22 amino-acids of signal peptide) rs770215498 | Natural mutant | | E97G_human-LIPC | | Natural mutant | | G141S_human-LIPC | p.G141S Gly141Ser c.478G>A (c.421G>A) (p.G119S Gly119Ser in the mature protein without the 22 amino-acids of signal peptide) rs547384437 found in an heterozygote individual with hyperalphalipoproteinemia (HALP) | Natural mutant | | G248V_human-LIPC | p.G248V Gly248Val c.800G>T (p.G226V Gly226Val in the mature protein without the 22 amino-acids of signal peptide) rs774643284. Found together in a patient compound heterozygote with R214I_human-lpl E282X_human-lpl mutations | Natural mutant | | insHYTVRV_human-LIPC | p.V134>VHYTVAV An inserted repeat of 18 nucleotides.Insertion carries an additional missense mutation A-->G at nucleotide 9 of the repeat which results in an amino acid exchange from Ile-->Val at codon 4 of the repeat.Insertion of HisTyrThrValArgVal | Natural mutant | | L356F_human-LIPC | pL356F Leu356Phe c.1068A>C (pL334F Leu334Phe in the mature protein without the 22 amino-acids of signal peptide) rs3829462 also Compound heterozygote with R208H or T405M | Natural mutant | | N215S_human-LIPC | p.N215S Asn215Ser (p.p.N197S Asn197Ser in the mature protein without the 22 amino-acids of signal peptide) rs6083 | Natural mutant | | Prom-216A_human-LIPC | The G-->A(-216) allele is associated with lower HL | Natural mutant | | Prom-250A_human-LIPC | The G-->A(-250) allele is associated with lower HL -250G/A | Natural mutant | | Prom-480T_human-LIPC | The C-->T(-480) allele is associated with lower HL -480C/T | Natural mutant | | Prom-514T_human-LIPC | The C-->T(-514) allele is associated with lower HL -514C/T | Natural mutant | | R208H_human-LIPC | pR208H Arg208His c.680G>A (pR186H Arg186His in the mature protein without the 22 amino-acids of signal peptide) rs200684324 Compound heterozygote with L356F | Natural mutant | | S289F_human-LIPC | pS289F Ser289Phe c.923C>T (pS267F Ser267Phe in the mature protein without the 22 amino-acids of signal peptide) rs121912502 | Natural mutant | | T405M_human-LIPC | p.T405M Tht405Met c.1271C>T (p.T383M Tht383Met in the mature protein without the 22 amino-acids of signal peptide) rs113298164 also Compound heterozygote with L356F | Natural mutant | | V95M_human-LIPC | p.V95M Val95Met c.283 G>A (p.V73M Val73Met in the mature protein without the 22 amino-acids of signal peptide) rs6078 | Natural mutant | | V173M_human-LIPC | p.V173S Val173Met c.174G>A (p.G151S Gly151Ser in the mature protein without the 22 amino-acids of signal peptide) rs767952446 | Natural mutant |
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