Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25247 | 75964;75965;75966 | chr2:178570393;178570392;178570391 | chr2:179435120;179435119;179435118 |
| N2AB | 23606 | 71041;71042;71043 | chr2:178570393;178570392;178570391 | chr2:179435120;179435119;179435118 |
| N2A | 22679 | 68260;68261;68262 | chr2:178570393;178570392;178570391 | chr2:179435120;179435119;179435118 |
| N2B | 16182 | 48769;48770;48771 | chr2:178570393;178570392;178570391 | chr2:179435120;179435119;179435118 |
| Novex-1 | 16307 | 49144;49145;49146 | chr2:178570393;178570392;178570391 | chr2:179435120;179435119;179435118 |
| Novex-2 | 16374 | 49345;49346;49347 | chr2:178570393;178570392;178570391 | chr2:179435120;179435119;179435118 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs577368021  |
-0.736 | 0.273 | N | 0.527 | 0.222 | 0.226586394389 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs577368021 |
-0.736 | 0.273 | N | 0.527 | 0.222 | 0.226586394389 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| T/A | rs577368021 |
-0.736 | 0.273 | N | 0.527 | 0.222 | 0.226586394389 | gnomAD-4.0.0 | 6.57851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47193E-05 | 0 | 0 |
| T/I | None | None | 0.013 | N | 0.335 | 0.24 | 0.259761712551 | gnomAD-4.0.0 | 6.84455E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52896E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | None | 0.864 | N | 0.567 | 0.285 | 0.321672782286 | gnomAD-4.0.0 | 1.36891E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-07 | 0 | 1.6575E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2757 | likely_benign | 0.2767 | benign | -0.839 | Destabilizing | 0.273 | N | 0.527 | neutral | N | 0.477229612 | None | None | N |
| T/C | 0.8603 | likely_pathogenic | 0.8624 | pathogenic | -0.566 | Destabilizing | 0.995 | D | 0.623 | neutral | None | None | None | None | N |
| T/D | 0.8644 | likely_pathogenic | 0.883 | pathogenic | -0.201 | Destabilizing | 0.894 | D | 0.553 | neutral | None | None | None | None | N |
| T/E | 0.8394 | likely_pathogenic | 0.8509 | pathogenic | -0.226 | Destabilizing | 0.894 | D | 0.547 | neutral | None | None | None | None | N |
| T/F | 0.8706 | likely_pathogenic | 0.8856 | pathogenic | -0.966 | Destabilizing | 0.894 | D | 0.716 | prob.delet. | None | None | None | None | N |
| T/G | 0.5784 | likely_pathogenic | 0.6051 | pathogenic | -1.063 | Destabilizing | 0.547 | D | 0.618 | neutral | None | None | None | None | N |
| T/H | 0.8047 | likely_pathogenic | 0.8141 | pathogenic | -1.276 | Destabilizing | 0.995 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/I | 0.7116 | likely_pathogenic | 0.7164 | pathogenic | -0.34 | Destabilizing | 0.013 | N | 0.335 | neutral | N | 0.500087829 | None | None | N |
| T/K | 0.6461 | likely_pathogenic | 0.6391 | pathogenic | -0.758 | Destabilizing | 0.894 | D | 0.552 | neutral | None | None | None | None | N |
| T/L | 0.4397 | ambiguous | 0.4538 | ambiguous | -0.34 | Destabilizing | 0.293 | N | 0.53 | neutral | None | None | None | None | N |
| T/M | 0.2678 | likely_benign | 0.2554 | benign | -0.018 | Destabilizing | 0.97 | D | 0.617 | neutral | None | None | None | None | N |
| T/N | 0.4113 | ambiguous | 0.4428 | ambiguous | -0.631 | Destabilizing | 0.864 | D | 0.567 | neutral | N | 0.473788321 | None | None | N |
| T/P | 0.4995 | ambiguous | 0.5677 | pathogenic | -0.475 | Destabilizing | 0.928 | D | 0.618 | neutral | N | 0.502954776 | None | None | N |
| T/Q | 0.7158 | likely_pathogenic | 0.712 | pathogenic | -0.875 | Destabilizing | 0.894 | D | 0.611 | neutral | None | None | None | None | N |
| T/R | 0.6408 | likely_pathogenic | 0.639 | pathogenic | -0.42 | Destabilizing | 0.894 | D | 0.611 | neutral | None | None | None | None | N |
| T/S | 0.2718 | likely_benign | 0.2956 | benign | -0.936 | Destabilizing | 0.024 | N | 0.301 | neutral | N | 0.480635277 | None | None | N |
| T/V | 0.5013 | ambiguous | 0.5144 | ambiguous | -0.475 | Destabilizing | 0.293 | N | 0.534 | neutral | None | None | None | None | N |
| T/W | 0.9677 | likely_pathogenic | 0.9706 | pathogenic | -0.851 | Destabilizing | 0.995 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/Y | 0.8818 | likely_pathogenic | 0.8912 | pathogenic | -0.644 | Destabilizing | 0.945 | D | 0.723 | prob.delet. | 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.