Sequence information
Variant position: 799 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 834 The length of the canonical sequence.
Location on the sequence:
ETVVPSQRARTQIPYSPGTF
C RLMPFRLSSKSVDSFLQADG
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 ETVVPSQRARTQIPYSPGTFC RLMPFRLSSKSVDSFLQADG
Mouse ETVVPSQRARVQIPNSPSNFR RLTPFRLSNKSVDSFLQADG
Rat ETVVPSQRARVQIPNSPSNFR RLTPFRLSNKSVDSFLQADG
Rabbit EAVVPSQRARVQIPYSPGNFR RLAPFRLSNKSVDSFLLAED
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
Chain
1 – 834
Sodium/hydrogen exchanger 3
Topological domain
457 – 834
Cytoplasmic
Modified residue
810 – 810
Phosphoserine
Modified residue
813 – 813
Phosphoserine
Literature citations
Cloning, tissue distribution, and functional analysis of the human Na+/N+ exchanger isoform, NHE3.
Brant S.R.; Yun C.H.; Donowitz M.; Tse C.-M.;
Am. J. Physiol. 269:C198-C206(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-799;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANT ARG-799;
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.