Variant position: 157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 925 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SAVMLREDDPGEAASMSMFS DFLQSF-----LKHSS-STVFDLVEEY
Mouse STVMLREDDPGEAASMSMFS DFLHSF-----LKHSS-TTVF
Rat STVMLREDDPGEAASMSMFS DFLQSF-----LKHSS-TTVF
Drosophila ------DLDRGKSRMDVLFP QFFDVL-----QAQGNGQEAF
Fission yeast ------CIGPNETAVSVELG DEYEKFNIITSLKKDNLFSKD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 925 Nuclear pore complex protein Nup107
Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome.
Miyake N.; Tsukaguchi H.; Koshimizu E.; Shono A.; Matsunaga S.; Shiina M.; Mimura Y.; Imamura S.; Hirose T.; Okudela K.; Nozu K.; Akioka Y.; Hattori M.; Yoshikawa N.; Kitamura A.; Cheong H.I.; Kagami S.; Yamashita M.; Fujita A.; Miyatake S.; Tsurusaki Y.; Nakashima M.; Saitsu H.; Ohashi K.; Imamoto N.; Ryo A.; Ogata K.; Iijima K.; Matsumoto N.;
Am. J. Hum. Genet. 97:555-566(2015)
Cited for: INVOLVEMENT IN NPHS11; VARIANTS NPHS11 TYR-157 AND ALA-831; CHARACTERIZATION OF VARIANTS NPHS11 TYR-157 AND ALA-831; INTERACTION WITH NUP133; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.