Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24843 | 74752;74753;74754 | chr2:178571605;178571604;178571603 | chr2:179436332;179436331;179436330 |
| N2AB | 23202 | 69829;69830;69831 | chr2:178571605;178571604;178571603 | chr2:179436332;179436331;179436330 |
| N2A | 22275 | 67048;67049;67050 | chr2:178571605;178571604;178571603 | chr2:179436332;179436331;179436330 |
| N2B | 15778 | 47557;47558;47559 | chr2:178571605;178571604;178571603 | chr2:179436332;179436331;179436330 |
| Novex-1 | 15903 | 47932;47933;47934 | chr2:178571605;178571604;178571603 | chr2:179436332;179436331;179436330 |
| Novex-2 | 15970 | 48133;48134;48135 | chr2:178571605;178571604;178571603 | chr2:179436332;179436331;179436330 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs373527654  |
-1.739 | 0.999 | N | 0.555 | 0.423 | 0.307966526162 | gnomAD-2.1.1 | 6.1E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.80008E-04 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs373527654 |
-1.739 | 0.999 | N | 0.555 | 0.423 | 0.307966526162 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.81846E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs373527654 |
-1.739 | 0.999 | N | 0.555 | 0.423 | 0.307966526162 | gnomAD-4.0.0 | 2.29351E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.02775E-04 | None | 0 | 0 | 0 | 0 | 3.04234E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8511 | likely_pathogenic | 0.8534 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| N/C | 0.5289 | ambiguous | 0.5509 | ambiguous | -0.454 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| N/D | 0.8907 | likely_pathogenic | 0.8954 | pathogenic | -1.667 | Destabilizing | 0.999 | D | 0.555 | neutral | N | 0.480914665 | None | None | N |
| N/E | 0.9899 | likely_pathogenic | 0.9888 | pathogenic | -1.499 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| N/F | 0.9783 | likely_pathogenic | 0.9698 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| N/G | 0.6001 | likely_pathogenic | 0.6149 | pathogenic | -1.388 | Destabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| N/H | 0.4865 | ambiguous | 0.4432 | ambiguous | -0.999 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.514113132 | None | None | N |
| N/I | 0.97 | likely_pathogenic | 0.9629 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.922 | deleterious | N | 0.509907926 | None | None | N |
| N/K | 0.9763 | likely_pathogenic | 0.9708 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.519460237 | None | None | N |
| N/L | 0.9142 | likely_pathogenic | 0.8984 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| N/M | 0.9595 | likely_pathogenic | 0.9509 | pathogenic | 0.303 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| N/P | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| N/Q | 0.9429 | likely_pathogenic | 0.9341 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/R | 0.9474 | likely_pathogenic | 0.9364 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| N/S | 0.2215 | likely_benign | 0.2287 | benign | -1.219 | Destabilizing | 0.999 | D | 0.525 | neutral | N | 0.491177557 | None | None | N |
| N/T | 0.8091 | likely_pathogenic | 0.7965 | pathogenic | -0.865 | Destabilizing | 0.999 | D | 0.588 | neutral | N | 0.509630032 | None | None | N |
| N/V | 0.9614 | likely_pathogenic | 0.9543 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| N/W | 0.9929 | likely_pathogenic | 0.9903 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| N/Y | 0.7555 | likely_pathogenic | 0.7082 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.521828538 | 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.