Variant position: 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 964 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 QVSGLCWRLKVYPDGNGVVR GYYLSVFLELSAGLPETSKYE
Mouse QVSGLCWRLKVYPDGNGVVR GYYLSVFLELSAGLPETSKYE
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 – 964 E3 ubiquitin-protein ligase TRIM37
276 – 403 MATH
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.
Kallijaervi J.; Lahtinen U.; Haemaelaeinen R.; Lipsanen-Nyman M.; Palvimo J.J.; Lehesjoki A.-E.;
Exp. Cell Res. 308:146-155(2005)
Cited for: FUNCTION; SUBCELLULAR LOCATION; AUTOUBIQUITINATION; MUTAGENESIS OF 35-CYS-CYS-36; VARIANT MUL PRO-76; CHARACTERIZATION OF VARIANTS MUL PRO-76 AND MUL VAL-322;
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Haemaelaeinen R.H.; Avela K.; Lambert J.A.; Kallijaervi J.; Eyaid W.; Gronau J.; Ignaszewski A.P.; McFadden D.; Sorge G.; Lipsanen-Nyman M.; Lehesjoki A.E.;
Hum. Mutat. 23:522-522(2004)
Cited for: VARIANT MUL VAL-322; CHARACTERIZATION OF VARIANT MUL VAR-322;
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