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UniProtKB/Swiss-Prot Q99758: Variant p.Arg280Cys

Phospholipid-transporting ATPase ABCA3
Gene: ABCA3
Variant information

Variant position:  280
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Cysteine (C) at position 280 (R280C, p.Arg280Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In SMDP3; unknown pathological significance; does not affect protein oligomerization.
Any additional useful information about the variant.



Sequence information

Variant position:  280
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1704
The length of the canonical sequence.

Location on the sequence:   QYQLPLLLLLSFTYTALTIA  R AVVQEKERRLKEYMRMMGLS
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                         QYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS

Mouse                         QYQLPLLLMLSFTYTSLTIIRAVVQEKEKKLKEYMRMMGLN

Rat                           QYQLPLLLMLSFTYTSLTIIRAVVQEKEKKLKEYMRMMGLS

Slime mold                    KETGGIFITAAIFVGLFTTITNMVMEKESKILEAMKIMGLH

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.

TypePositionsDescription
Chain 1 – 1704 Phospholipid-transporting ATPase ABCA3
Chain 175 – 1704 150 Kda mature form
Transmembrane 261 – 283 Helical
Alternative sequence 210 – 1704 Missing. In isoform 2.


Literature citations

Homooligomerization of ABCA3 and its functional significance.
Frixel S.; Lotz-Havla A.S.; Kern S.; Kaltenborn E.; Wittmann T.; Gersting S.W.; Muntau A.C.; Zarbock R.; Griese M.;
Int. J. Mol. Med. 38:558-566(2016)
Cited for: SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SMDP3 LYS-215; CYS-280 AND LYS-288; MUTAGENESIS OF SER-693;

Respiratory failure in a term infant with cis and trans mutations in ABCA3.
Jackson T.; Wegner D.J.; White F.V.; Hamvas A.; Cole F.S.; Wambach J.A.;
J. Perinatol. 35:231-232(2015)
Cited for: VARIANTS SMDP3 CYS-280; MET-1399 AND 1589-GLN--ARG-1704 DEL;

Disclaimer: 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.