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MutDB Position: rs1129980
  SNP InfoAnnotation Info
Functional class:coding-nonsynon dbSNP Source: rs1129980
Wild type nucleotide: G
Wild type amino acid: E
Variant nucleotide: T
Variant amino acid: D
Amino acid position: 390
Chromosome strand orientation: reverse
Chromosome variant position: 132266537
Protein mrna accession:NM_001448
SIFT Score: (help?) 0.45
SIFT Prediction: TOLERATED
Sequence
  This sequence was derived from NCBI entry: NM_001448
MARFGLPALLCTLAVLSAALLAAELKSKSCSEVRRLYVSKGFNKNDAPLHEINGDHLKICPQGSTCCSQE
MEEKYSLQSKDDFKSVVSEQCNHLQAVFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFK
DLFVELKRYYVVGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQ
VTRAFVAARTFAQGLAVAGDVVSKVSVVNPTAQCTHALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLAN
QGDLDFEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAG
RISRSISESAFSARFRPHHPEERPTTAAGTSLDRLVTDVK [ E -> D ] KLKQAKKFWSSLPSNVC
NDERMAAGNGNEDDCWNGKGKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNA
YNGNDVDFFDISDESSGEGSGSGCEYQQCPSEFDYNATDHAGKSANEKADSAGVRPGAQAYLLTVFCILF
LVMQREWR
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