Variant position: 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 345 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 FFRSL----WGPYAGWAQAVLFSA DLRQSRHAQEPPAKRRKG---SKG
Mouse FFRNL----WGPYAGWAQAVLFSA DLRQPSLSREPPAKRKK
Rat FFRNL----WGPYAGWAQAVLFSA DLRQQNLSREPPAKRKK
Drosophila HFQKL----HGKYAGWAQAILFSA DLSQFQNTSTVACKKKS
Baker's yeast HIRLMLFKKWGSYAGWAQGVLFSK EIGGTSGSTTTGTIKKR
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 – 345 N-glycosylase/DNA lyase
315 – 315 8-oxoguanine
319 – 319 8-oxoguanine
196 – 345 Missing. In isoform 2C.
250 – 345 VADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG -> GLLGNAFDGHQLLRPLIFCQDHLREGPPIGRGDSQGEELEPQLPSSLSSIPYGFCDHCWTKDVDDPPLVTHPSPGSRDGHMTQAWPVKVVSPLATVIGHVMQASLLAL. In isoform 2B.
317 – 345 VLFSADLRQSRHAQEPPAKRRKGSKGPEG -> VSVPRCPP. In isoform 1B.
317 – 345 VLFSADLRQSRHAQEPPAKRRKGSKGPEG -> TPPSYRCCSVPTCANPAMLRSHQQSAERVPKGRKARWGTLDKEIPQAPSPPFPTSLSPSPPSLMLGRGLPVTTSKARHPQIKQSVCTTRWGGGY. In isoform 1C.
317 – 345 VLFSADLRQSRHAQEPPAKRRKGSKGPEG -> GLLGNAFDGHQLLRPLIFCQDHLREGPPIGRGDSQGEELEPQLPSSLSSIPYGFCDHCWTKDVDDPPLVTHPSPGSRDGHMTQAWPVKVVSPLATVIGHVMQASLLAL. In isoform 2A.
317 – 345 VLFSADLRQSRHAQEPPAKRRKGSKGPEG -> LCQVITTFMTFLGPHRLDQMPPEELQTSSSRLGGPPWQCI. In isoform 2D.
317 – 345 VLFSADLRQSRHAQEPPAKRRKGSKGPEG -> AGSDAS. In isoform 2E.
311 – 323
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-229; VAL-288; ASN-322 AND CYS-326;
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.