Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9580 | 28963;28964;28965 | chr2:178709581;178709580;178709579 | chr2:179574308;179574307;179574306 |
N2AB | 9263 | 28012;28013;28014 | chr2:178709581;178709580;178709579 | chr2:179574308;179574307;179574306 |
N2A | 8336 | 25231;25232;25233 | chr2:178709581;178709580;178709579 | chr2:179574308;179574307;179574306 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/L | rs375212459 | -0.13 | 0.379 | None | 0.587 | 0.428 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
S/L | rs375212459 | -0.13 | 0.379 | None | 0.587 | 0.428 | None | gnomAD-4.0.0 | 1.61279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.05792E-05 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.1091 | likely_benign | 0.0973 | benign | -0.866 | Destabilizing | 0.004 | N | 0.196 | neutral | None | None | None | None | N |
S/C | 0.2989 | likely_benign | 0.2758 | benign | -0.554 | Destabilizing | 0.977 | D | 0.56 | neutral | None | None | None | None | N |
S/D | 0.8435 | likely_pathogenic | 0.7846 | pathogenic | 0.187 | Stabilizing | 0.005 | N | 0.306 | neutral | None | None | None | None | N |
S/E | 0.8541 | likely_pathogenic | 0.8137 | pathogenic | 0.176 | Stabilizing | 0.447 | N | 0.51 | neutral | None | None | None | None | N |
S/F | 0.4242 | ambiguous | 0.3786 | ambiguous | -1.135 | Destabilizing | 0.92 | D | 0.64 | neutral | None | None | None | None | N |
S/G | 0.2614 | likely_benign | 0.2173 | benign | -1.08 | Destabilizing | 0.25 | N | 0.49 | neutral | None | None | None | None | N |
S/H | 0.697 | likely_pathogenic | 0.6477 | pathogenic | -1.518 | Destabilizing | 0.992 | D | 0.556 | neutral | None | None | None | None | N |
S/I | 0.4679 | ambiguous | 0.4156 | ambiguous | -0.403 | Destabilizing | 0.85 | D | 0.629 | neutral | None | None | None | None | N |
S/K | 0.9423 | likely_pathogenic | 0.9162 | pathogenic | -0.42 | Destabilizing | 0.617 | D | 0.51 | neutral | None | None | None | None | N |
S/L | 0.1936 | likely_benign | 0.1649 | benign | -0.403 | Destabilizing | 0.379 | N | 0.587 | neutral | None | None | None | None | N |
S/M | 0.4029 | ambiguous | 0.3615 | ambiguous | -0.142 | Destabilizing | 0.992 | D | 0.556 | neutral | None | None | None | None | N |
S/N | 0.4025 | ambiguous | 0.3502 | ambiguous | -0.316 | Destabilizing | 0.617 | D | 0.52 | neutral | None | None | None | None | N |
S/P | 0.8372 | likely_pathogenic | 0.7694 | pathogenic | -0.527 | Destabilizing | 0.896 | D | 0.575 | neutral | None | None | None | None | N |
S/Q | 0.8001 | likely_pathogenic | 0.7637 | pathogenic | -0.515 | Destabilizing | 0.92 | D | 0.54 | neutral | None | None | None | None | N |
S/R | 0.8977 | likely_pathogenic | 0.8603 | pathogenic | -0.37 | Destabilizing | 0.85 | D | 0.59 | neutral | None | None | None | None | N |
S/T | 0.1457 | likely_benign | 0.134 | benign | -0.453 | Destabilizing | 0.007 | N | 0.17 | neutral | None | None | None | None | N |
S/V | 0.3738 | ambiguous | 0.3221 | benign | -0.527 | Destabilizing | 0.447 | N | 0.601 | neutral | None | None | None | None | N |
S/W | 0.6771 | likely_pathogenic | 0.6118 | pathogenic | -1.027 | Destabilizing | 0.992 | D | 0.664 | neutral | None | None | None | None | N |
S/Y | 0.388 | ambiguous | 0.3409 | ambiguous | -0.772 | Destabilizing | 0.972 | D | 0.636 | neutral | None | None | None | None | N |
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.