Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35210 | 105853;105854;105855 | chr2:178530987;178530986;178530985 | chr2:179395714;179395713;179395712 |
| N2AB | 33569 | 100930;100931;100932 | chr2:178530987;178530986;178530985 | chr2:179395714;179395713;179395712 |
| N2A | 32642 | 98149;98150;98151 | chr2:178530987;178530986;178530985 | chr2:179395714;179395713;179395712 |
| N2B | 26145 | 78658;78659;78660 | chr2:178530987;178530986;178530985 | chr2:179395714;179395713;179395712 |
| Novex-1 | 26270 | 79033;79034;79035 | chr2:178530987;178530986;178530985 | chr2:179395714;179395713;179395712 |
| Novex-2 | 26337 | 79234;79235;79236 | chr2:178530987;178530986;178530985 | chr2:179395714;179395713;179395712 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs397517798  |
None | 0.998 | N | 0.579 | 0.241 | 0.367425347029 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | None | None | 0.975 | N | 0.527 | 0.362 | 0.3349148499 | gnomAD-4.0.0 | 4.10483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39636E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3343 | likely_benign | 0.3343 | benign | -0.553 | Destabilizing | 0.981 | D | 0.594 | neutral | None | None | None | None | N |
| Q/C | 0.9045 | likely_pathogenic | 0.9093 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| Q/D | 0.6987 | likely_pathogenic | 0.7108 | pathogenic | -0.498 | Destabilizing | 0.074 | N | 0.237 | neutral | None | None | None | None | N |
| Q/E | 0.1143 | likely_benign | 0.1167 | benign | -0.392 | Destabilizing | 0.8 | D | 0.405 | neutral | N | 0.459599149 | None | None | N |
| Q/F | 0.935 | likely_pathogenic | 0.9428 | pathogenic | -0.121 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | N |
| Q/G | 0.4755 | ambiguous | 0.5239 | ambiguous | -0.918 | Destabilizing | 0.981 | D | 0.689 | prob.neutral | None | None | None | None | N |
| Q/H | 0.5988 | likely_pathogenic | 0.6088 | pathogenic | -0.717 | Destabilizing | 0.998 | D | 0.579 | neutral | N | 0.507393095 | None | None | N |
| Q/I | 0.68 | likely_pathogenic | 0.6954 | pathogenic | 0.384 | Stabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| Q/K | 0.1717 | likely_benign | 0.19 | benign | -0.457 | Destabilizing | 0.975 | D | 0.527 | neutral | N | 0.489036621 | None | None | N |
| Q/L | 0.3403 | ambiguous | 0.3572 | ambiguous | 0.384 | Stabilizing | 0.992 | D | 0.68 | prob.neutral | N | 0.48828726 | None | None | N |
| Q/M | 0.5544 | ambiguous | 0.5565 | ambiguous | 0.61 | Stabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| Q/N | 0.6101 | likely_pathogenic | 0.6127 | pathogenic | -0.94 | Destabilizing | 0.962 | D | 0.574 | neutral | None | None | None | None | N |
| Q/P | 0.7497 | likely_pathogenic | 0.8571 | pathogenic | 0.103 | Stabilizing | 0.998 | D | 0.649 | neutral | D | 0.529384521 | None | None | N |
| Q/R | 0.2147 | likely_benign | 0.2429 | benign | -0.413 | Destabilizing | 0.975 | D | 0.591 | neutral | N | 0.480129136 | None | None | N |
| Q/S | 0.4912 | ambiguous | 0.4787 | ambiguous | -1.024 | Destabilizing | 0.962 | D | 0.529 | neutral | None | None | None | None | N |
| Q/T | 0.3616 | ambiguous | 0.3696 | ambiguous | -0.732 | Destabilizing | 0.981 | D | 0.633 | neutral | None | None | None | None | N |
| Q/V | 0.4716 | ambiguous | 0.4806 | ambiguous | 0.103 | Stabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | N |
| Q/W | 0.8669 | likely_pathogenic | 0.9048 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| Q/Y | 0.8394 | likely_pathogenic | 0.8585 | pathogenic | 0.177 | Stabilizing | 0.998 | D | 0.675 | 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.