Variant position: 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 131 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 DSNLTLGPGLQPLPQTSHH--H RHHRAAATNPARYCCLSGCTQ
Chimpanzee NSNLTLGPGLQPLPQTSHH--H RHHRAAATNPARYCCLSGC
Mouse DVDPALDP------QLPRQASQ RQRRSAATNAVHRCCLTGC
Rat DADPALDPDPALDPQLPHQASQ RQRRSVATNAVHRCCLTGC
Pig SGDPMLVLAPQPPPQASGH--H HHRRAAATNPARHCCLSGC
Bovine SGDPVLVLAPQPLPQASRH--H HHRRATAINPARHCCLSGC
Drosophila DSSVQMLK-------------T RRLRDGVFDE---CCLKSC
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
58 – 104 C peptide like
34 – 116 Interchain (between B and A chains)
46 – 129 Interchain (between B and A chains)
64 – 131 RELLQWLERRHLLHGLVADSNLTLGPGLQPLPQTSHHHRHHRAAATNPARYCCLSGCTQQDLLTLCPY -> QRESHSVSQAGLKLLSSSNPPTLTFQSVGISDVSCYSGWRDDICSMGWWPTVISRWDLACSPCPRPLTITATTVQLPPTLHATAASVAVPNKTC. In isoform 2.
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.
Marin P.; Ferlin A.; Moro E.; Rossi A.; Bartoloni L.; Rossato M.; Foresta C.;
Am. J. Med. Genet. 103:348-349(2001)
Cited for: VARIANT CRYPTO CYS-102; VARIANT ALA-60;
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