ABCB3 p.Leu75*
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PMID: 16024646
[PubMed]
Kloor M et al: "Immunoselective pressure and human leukocyte antigen class I antigen machinery defects in microsatellite unstable colorectal cancers."
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Sentence
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145
Mutations at cMS located within APM component encoding genes cMS U1 U2 U3 U4 U5 U6 U7 U8 U9 U10 U11 U12 U13 U14 U15 U16 U17 U18 U19 U20 Total (%) b2m * NA mut1 wt wt mut2/mut4 wt NA wt wt wt wt wt mut5 wt NA wt mut3/mut5 mut5 wt wt 5/17 (29.4) Calnexin T8 wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/20 (0) Delta G6 NA wt wt wt wt wt wt wt wt wt wt wt wt wt NA wt wt wt NA wt 0/17(0) ERp57 T6 wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/20 (0) ERp57 A6 wt wt wt wt NA wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/19 (0) ERp57 C6 NA wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/19 (0) LMP7 C6 wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/20 (0) TAP1 G6 wt wt wt wt mut6 mut6 wt wt wt wt wt wt NA wt wt wt wt NA wt wt 2/18 (11.1) TAP2 C6 NA wt wt wt wt wt wt wt wt mut7 wt wt wt wt NA wt wt wt NA wt 1/17 (5.9) Tapasin a C6 wt NA wt wt wt wt wt NA wt NA wt NA wt wt wt NA wt NA NA NA 0/12 (0) Tapasin b C6 NA wt wt wt wt wt wt wt wt NA wt NA wt wt NA wt wt wt NA wt 0/15 (0) B. Description of mutations on nucleotide and amino acid level Gene Mutation Description on nucleotide level Description on amino acid level Consequence b2m mut1 c.43_44delCT L15fsX55 Frameshift, stop 41 aa downstream mut2 c.47_48delCT S16fsX55 Frameshift, stop 40 aa downstream mut3 c.45_48delTTCT L15fsX42 Frameshift, stop 28 aa downstream mut4 c.204_205insA V68fsX88 Frameshift, stop 21 aa downstream mut5 c.204delA K67fsX102 Frameshift, stop 36 aa downstream TAP1 mut6 c.2351delG G784fsX878 Frameshift, nonsense stretch of 95 aa TAP2 mut7 c.223delC L75X Stop codon Abbreviations: aa, amino acid; mut, mutant; wt, wild type.
X
ABCB3 p.Leu75* 16024646:145:1595
status: NEW143 Mutations at cMS located within APM component encoding genes cMS U1 U2 U3 U4 U5 U6 U7 U8 U9 U10 U11 U12 U13 U14 U15 U16 U17 U18 U19 U20 Total (%) b2m * NA mut1 wt wt mut2/mut4 wt NA wt wt wt wt wt mut5 wt NA wt mut3/mut5 mut5 wt wt 5/17 (29.4) Calnexin T8 wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/20 (0) Delta G6 NA wt wt wt wt wt wt wt wt wt wt wt wt wt NA wt wt wt NA wt 0/17(0) ERp57 T6 wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/20 (0) ERp57 A6 wt wt wt wt NA wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/19 (0) ERp57 C6 NA wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/19 (0) LMP7 C6 wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt wt 0/20 (0) TAP1 G6 wt wt wt wt mut6 mut6 wt wt wt wt wt wt NA wt wt wt wt NA wt wt 2/18 (11.1) TAP2 C6 NA wt wt wt wt wt wt wt wt mut7 wt wt wt wt NA wt wt wt NA wt 1/17 (5.9) Tapasin a C6 wt NA wt wt wt wt wt NA wt NA wt NA wt wt wt NA wt NA NA NA 0/12 (0) Tapasin b C6 NA wt wt wt wt wt wt wt wt NA wt NA wt wt NA wt wt wt NA wt 0/15 (0) B. Description of mutations on nucleotide and amino acid level Gene Mutation Description on nucleotide level Description on amino acid level Consequence b2m mut1 c.43_44delCT L15fsX55 Frameshift, stop 41 aa downstream mut2 c.47_48delCT S16fsX55 Frameshift, stop 40 aa downstream mut3 c.45_48delTTCT L15fsX42 Frameshift, stop 28 aa downstream mut4 c.204_205insA V68fsX88 Frameshift, stop 21 aa downstream mut5 c.204delA K67fsX102 Frameshift, stop 36 aa downstream TAP1 mut6 c.2351delG G784fsX878 Frameshift, nonsense stretch of 95 aa TAP2 mut7 c.223delC L75X Stop codon Abbreviations: aa, amino acid; mut, mutant; wt, wild type.
X
ABCB3 p.Leu75* 16024646:143:1595
status: NEW144 Description of mutations on nucleotide and amino acid level Gene Mutation Description on nucleotide level Description on amino acid level Consequence b2m mut1 c.43_44delCT L15fsX55 Frameshift, stop 41 aa downstream mut2 c.47_48delCT S16fsX55 Frameshift, stop 40 aa downstream mut3 c.45_48delTTCT L15fsX42 Frameshift, stop 28 aa downstream mut4 c.204_205insA V68fsX88 Frameshift, stop 21 aa downstream mut5 c.204delA K67fsX102 Frameshift, stop 36 aa downstream TAP1 mut6 c.2351delG G784fsX878 Frameshift, nonsense stretch of 95 aa TAP2 mut7 c.223delC L75X Stop codon Abbreviations: aa, amino acid; mut, mutant; wt, wild type.
X
ABCB3 p.Leu75* 16024646:144:550
status: NEW