Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19469 | 58630;58631;58632 | chr2:178593988;178593987;178593986 | chr2:179458715;179458714;179458713 |
| N2AB | 17828 | 53707;53708;53709 | chr2:178593988;178593987;178593986 | chr2:179458715;179458714;179458713 |
| N2A | 16901 | 50926;50927;50928 | chr2:178593988;178593987;178593986 | chr2:179458715;179458714;179458713 |
| N2B | 10404 | 31435;31436;31437 | chr2:178593988;178593987;178593986 | chr2:179458715;179458714;179458713 |
| Novex-1 | 10529 | 31810;31811;31812 | chr2:178593988;178593987;178593986 | chr2:179458715;179458714;179458713 |
| Novex-2 | 10596 | 32011;32012;32013 | chr2:178593988;178593987;178593986 | chr2:179458715;179458714;179458713 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs551642842  |
-0.011 | 0.99 | N | 0.459 | 0.264 | 0.505701759113 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| K/R | rs551642842 |
-0.011 | 0.99 | N | 0.459 | 0.264 | 0.505701759113 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5465 | ambiguous | 0.5504 | ambiguous | -0.44 | Destabilizing | 0.931 | D | 0.447 | neutral | None | None | None | None | N |
| K/C | 0.818 | likely_pathogenic | 0.8202 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/D | 0.7505 | likely_pathogenic | 0.7751 | pathogenic | 0.201 | Stabilizing | 0.996 | D | 0.546 | neutral | None | None | None | None | N |
| K/E | 0.2323 | likely_benign | 0.2288 | benign | 0.309 | Stabilizing | 0.98 | D | 0.415 | neutral | N | 0.470352073 | None | None | N |
| K/F | 0.8872 | likely_pathogenic | 0.8852 | pathogenic | -0.243 | Destabilizing | 0.996 | D | 0.69 | prob.neutral | None | None | None | None | N |
| K/G | 0.7444 | likely_pathogenic | 0.749 | pathogenic | -0.757 | Destabilizing | 0.985 | D | 0.574 | neutral | None | None | None | None | N |
| K/H | 0.4378 | ambiguous | 0.4459 | ambiguous | -0.873 | Destabilizing | 1.0 | D | 0.565 | neutral | None | None | None | None | N |
| K/I | 0.5006 | ambiguous | 0.507 | ambiguous | 0.362 | Stabilizing | 0.989 | D | 0.604 | neutral | D | 0.522266547 | None | None | N |
| K/L | 0.5437 | ambiguous | 0.542 | ambiguous | 0.362 | Stabilizing | 0.171 | N | 0.419 | neutral | None | None | None | None | N |
| K/M | 0.3266 | likely_benign | 0.3198 | benign | -0.02 | Destabilizing | 0.996 | D | 0.587 | neutral | None | None | None | None | N |
| K/N | 0.6017 | likely_pathogenic | 0.615 | pathogenic | -0.296 | Destabilizing | 0.994 | D | 0.439 | neutral | N | 0.517532731 | None | None | N |
| K/P | 0.9468 | likely_pathogenic | 0.9489 | pathogenic | 0.124 | Stabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | N |
| K/Q | 0.1758 | likely_benign | 0.1707 | benign | -0.289 | Destabilizing | 0.997 | D | 0.517 | neutral | N | 0.507142379 | None | None | N |
| K/R | 0.0956 | likely_benign | 0.0939 | benign | -0.277 | Destabilizing | 0.99 | D | 0.459 | neutral | N | 0.490596846 | None | None | N |
| K/S | 0.532 | ambiguous | 0.537 | ambiguous | -0.911 | Destabilizing | 0.719 | D | 0.311 | neutral | None | None | None | None | N |
| K/T | 0.2056 | likely_benign | 0.2072 | benign | -0.603 | Destabilizing | 0.4 | N | 0.32 | neutral | N | 0.443493546 | None | None | N |
| K/V | 0.4412 | ambiguous | 0.4489 | ambiguous | 0.124 | Stabilizing | 0.971 | D | 0.543 | neutral | None | None | None | None | N |
| K/W | 0.8621 | likely_pathogenic | 0.8478 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/Y | 0.7542 | likely_pathogenic | 0.7514 | pathogenic | 0.114 | Stabilizing | 0.999 | D | 0.667 | 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.