Variant position: 474 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 517 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 MFDIRLMKEGRMKGQAFIGL PNEKAAAKALKEANGYVLFGK
Mouse MFDIRLMKEGRMKGQAFVGL PNEKAAAKALKEANGYVLFGK
Rat MFDIRLMKEGRMKGQAFVGL PNEKAAAKALKEANGYVLFGK
Bovine MFDIRLMKEGRMKGQAFIGL PNEKAAAKALKEANGYVLFGK
Zebrafish MFDIVLMKEGRMKGQAFIGL PSERSAQKALKETNGYVLKDK
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 – 517 RNA-binding region-containing protein 3
420 – 503 RRM 2
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
Argente J.; Flores R.; Gutierrez-Arumi A.; Verma B.; Martos-Moreno G.A.; Cusco I.; Oghabian A.; Chowen J.A.; Frilander M.J.; Perez-Jurado L.A.;
EMBO Mol. Med. 6:299-306(2014)
Cited for: INVOLVEMENT IN IGHD5; VARIANTS IGHD5 THR-474 AND 502-ARG--CYS-517 DEL; FUNCTION;
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
Norppa A.J.; Kauppala T.M.; Heikkinen H.A.; Verma B.; Iwai H.; Frilander M.J.;
Cited for: CHARACTERIZATION OF VARIANTS IGHD5 THR-474 AND 502-ARG--CYS-517 DEL; FUNCTION; STRUCTURE BY NMR OF 381-516;
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