Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 453 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 SKLWVPNTDFDVAANWSQNR TPCAGGAVEFPADKMVSVLVQ
Mouse YKLWVPNTSFDTASNWNQNR TPCAGDAVQFPADKMVSVLVR
Pig YKLWVPNTYFDAADNWSQNQ TPCAGAAVKFPADKMVSVLVR
Drosophila TKWYGGGMDFNDPTAWLDDH LPCAQDLVVFPEYYPALLPLP
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
20 – 453 Protein amnionless
20 – 357 Extracellular
35 – 35 N-linked (GlcNAc...) asparagine
35 – 35 N -> Q. Loss of expression at the cell membrane.
37 – 37 S -> A. No effect.
59 – 59 L -> P. Loss of interaction with CUBN and strongly reduced CUBN expression at the cell surface.
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
Tanner S.M.; Aminoff M.; Wright F.A.; Liyanarachchi S.; Kuronen M.; Saarinen A.; Massika O.; Mandel H.; Broch H.; de la Chapelle A.;
Nat. Genet. 33:426-429(2003)
Cited for: PROTEIN SEQUENCE OF 300-323 AND 393-453; TISSUE SPECIFICITY; VARIANT RH-MGA1 ILE-41; FUNCTION; ALTERNATIVE PRODUCTS;
Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption.
Larsen C.; Etzerodt A.; Madsen M.; Skjodt K.; Moestrup S.K.; Andersen C.B.F.;
Nat. Commun. 9:5204-5204(2018)
Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 20-357 IN COMPLEX WITH CUBN; CHARACTERIZATION OF VARIANT RH-MGA1 ILE-41; SUBUNIT; SUBCELLULAR LOCATION; TOPOLOGY; DISULFIDE BONDS; MUTAGENESIS OF ASN-35 AND SER-37;
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner S.M.; Sturm A.C.; Baack E.C.; Liyanarachchi S.; de la Chapelle A.;
Orphanet J. Rare Dis. 7:56-56(2012)
Cited for: VARIANTS RH-MGA1 ILE-41 AND PHE-234;
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
Udagawa T.; Harita Y.; Miura K.; Mitsui J.; Ode K.L.; Morishita S.; Urae S.; Kanda S.; Kajiho Y.; Tsurumi H.; Ueda H.R.; Tsuji S.; Saito A.; Oka A.;
Sci. Rep. 8:2351-2351(2018)
Cited for: FUNCTION; INTERACTION WITH CUBN; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS RH-MGA1 ILE-41; LYS-69 AND PHE-234; MUTAGENESIS OF LEU-59 AND GLY-254;
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.