Full data view for gene SOD1

Information The variants shown are described using the NM_000454.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

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Technique     

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Ethnic origin     

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?/. 5 c.380T>C r.(?) p.(Leu127Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Both (homozygous) g.33040806T>C Kato M1, Aoki M, Ohta M, Nagai M, Ishizaki F, Nakamura S, Itoyama Y.(2001) SOD1_000001 - ? ? ALS Kato M1, Aoki M, Ohta M, Nagai M, Ishizaki F, Nakamura S, Itoyama Y.(2001) - - 1 Y Yang
./. 5 c.380T>C r.(?) p.(Leu127Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.33040806T>C Murakami T1, Warita H, Hayashi T, Sato K, Manabe Y, Mizuno S, Yamane K, Abe K.(2001) SOD1_000001 - ? ? ALS Murakami T1, Warita H, Hayashi T, Sato K, Manabe Y, Mizuno S, Yamane K, Abe K.(2001) - - 1 Y Yang
./. 5 c.380T>C r.(?) p.(Leu127Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.33040806T>C Sato T1, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T, Shimizu A, Sakoda S.(2005) SOD1_000001 - ? ? ALS "Sato T1, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T(2005) - - 1 Y Yang
?/. 5 c.380T>C r.(380u>c) p.(Leu127Ser) - - Unknown g.33040806T>C Y Takehisa, H Ujike, H Ishizu, et al SOD1_000001 - ? ? ALS Y Takehisa, H Ujike, H Ishizu, et al - - 1 XY Liu
?/. 5 c.380T>C r.(380u>c) p.(Leu127Ser) - - Unknown g.33040806T>C Makoto Hideshima, et al. (2020) SOD1_000001 - ? ? ALS Makoto Hideshima, et al. (2020) Japanese - 1 XY Liu
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