Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 18051 | 54376;54377;54378 | chr2:178605026;178605025;178605024 | chr2:179469753;179469752;179469751 |
N2AB | 16410 | 49453;49454;49455 | chr2:178605026;178605025;178605024 | chr2:179469753;179469752;179469751 |
N2A | 15483 | 46672;46673;46674 | chr2:178605026;178605025;178605024 | chr2:179469753;179469752;179469751 |
N2B | 8986 | 27181;27182;27183 | chr2:178605026;178605025;178605024 | chr2:179469753;179469752;179469751 |
Novex-1 | 9111 | 27556;27557;27558 | chr2:178605026;178605025;178605024 | chr2:179469753;179469752;179469751 |
Novex-2 | 9178 | 27757;27758;27759 | chr2:178605026;178605025;178605024 | chr2:179469753;179469752;179469751 |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/R | rs771364277 | 0.28 | 0.994 | N | 0.674 | 0.567 | 0.810086806081 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.05E-06 | 0 |
L/R | rs771364277 | 0.28 | 0.994 | N | 0.674 | 0.567 | 0.810086806081 | gnomAD-4.0.0 | 1.37559E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8065E-06 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/A | 0.5746 | likely_pathogenic | 0.5609 | ambiguous | -0.423 | Destabilizing | 0.97 | D | 0.494 | neutral | None | None | None | None | I |
L/C | 0.7403 | likely_pathogenic | 0.746 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | I |
L/D | 0.9512 | likely_pathogenic | 0.9384 | pathogenic | -0.191 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | I |
L/E | 0.8287 | likely_pathogenic | 0.7985 | pathogenic | -0.287 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | I |
L/F | 0.3907 | ambiguous | 0.3388 | benign | -0.63 | Destabilizing | 0.151 | N | 0.27 | neutral | N | 0.459292504 | None | None | I |
L/G | 0.8292 | likely_pathogenic | 0.8104 | pathogenic | -0.512 | Destabilizing | 0.996 | D | 0.668 | neutral | None | None | None | None | I |
L/H | 0.5763 | likely_pathogenic | 0.5237 | ambiguous | 0.07 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.48886605 | None | None | I |
L/I | 0.2671 | likely_benign | 0.2754 | benign | -0.311 | Destabilizing | 0.925 | D | 0.399 | neutral | N | 0.480475853 | None | None | I |
L/K | 0.634 | likely_pathogenic | 0.6317 | pathogenic | -0.306 | Destabilizing | 0.996 | D | 0.618 | neutral | None | None | None | None | I |
L/M | 0.2239 | likely_benign | 0.2179 | benign | -0.56 | Destabilizing | 0.559 | D | 0.289 | neutral | None | None | None | None | I |
L/N | 0.7342 | likely_pathogenic | 0.7064 | pathogenic | -0.161 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | I |
L/P | 0.956 | likely_pathogenic | 0.9566 | pathogenic | -0.321 | Destabilizing | 0.998 | D | 0.7 | prob.neutral | N | 0.512688263 | None | None | I |
L/Q | 0.5013 | ambiguous | 0.4636 | ambiguous | -0.339 | Destabilizing | 0.996 | D | 0.67 | neutral | None | None | None | None | I |
L/R | 0.5374 | ambiguous | 0.5334 | ambiguous | 0.14 | Stabilizing | 0.994 | D | 0.674 | neutral | N | 0.505123581 | None | None | I |
L/S | 0.7297 | likely_pathogenic | 0.6861 | pathogenic | -0.545 | Destabilizing | 0.996 | D | 0.587 | neutral | None | None | None | None | I |
L/T | 0.6674 | likely_pathogenic | 0.6473 | pathogenic | -0.542 | Destabilizing | 0.996 | D | 0.49 | neutral | None | None | None | None | I |
L/V | 0.2743 | likely_benign | 0.2783 | benign | -0.321 | Destabilizing | 0.835 | D | 0.449 | neutral | N | 0.459252432 | None | None | I |
L/W | 0.5972 | likely_pathogenic | 0.5557 | ambiguous | -0.652 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
L/Y | 0.6418 | likely_pathogenic | 0.5877 | pathogenic | -0.412 | Destabilizing | 0.983 | D | 0.535 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.