Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19135 | 57628;57629;57630 | chr2:178597679;178597678;178597677 | chr2:179462406;179462405;179462404 |
| N2AB | 17494 | 52705;52706;52707 | chr2:178597679;178597678;178597677 | chr2:179462406;179462405;179462404 |
| N2A | 16567 | 49924;49925;49926 | chr2:178597679;178597678;178597677 | chr2:179462406;179462405;179462404 |
| N2B | 10070 | 30433;30434;30435 | chr2:178597679;178597678;178597677 | chr2:179462406;179462405;179462404 |
| Novex-1 | 10195 | 30808;30809;30810 | chr2:178597679;178597678;178597677 | chr2:179462406;179462405;179462404 |
| Novex-2 | 10262 | 31009;31010;31011 | chr2:178597679;178597678;178597677 | chr2:179462406;179462405;179462404 |
| 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/E | None | None | None | N | 0.121 | 0.14 | 0.270001397563 | gnomAD-4.0.0 | 1.59213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-06 | 0 | 0 |
| Q/L | None | None | 0.081 | N | 0.25 | 0.182 | 0.338110398507 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 5.97836E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0747 | likely_benign | 0.0689 | benign | -0.082 | Destabilizing | 0.025 | N | 0.217 | neutral | None | None | None | None | N |
| Q/C | 0.4563 | ambiguous | 0.476 | ambiguous | -0.211 | Destabilizing | 0.958 | D | 0.263 | neutral | None | None | None | None | N |
| Q/D | 0.1331 | likely_benign | 0.1339 | benign | -0.266 | Destabilizing | 0.025 | N | 0.183 | neutral | None | None | None | None | N |
| Q/E | 0.0539 | likely_benign | 0.0604 | benign | -0.327 | Destabilizing | None | N | 0.121 | neutral | N | 0.36176317 | None | None | N |
| Q/F | 0.4748 | ambiguous | 0.472 | ambiguous | -0.534 | Destabilizing | 0.859 | D | 0.336 | neutral | None | None | None | None | N |
| Q/G | 0.1314 | likely_benign | 0.1406 | benign | -0.164 | Destabilizing | 0.104 | N | 0.244 | neutral | None | None | None | None | N |
| Q/H | 0.1345 | likely_benign | 0.1394 | benign | 0.06 | Stabilizing | 0.602 | D | 0.162 | neutral | N | 0.471741726 | None | None | N |
| Q/I | 0.1825 | likely_benign | 0.1686 | benign | 0.038 | Stabilizing | 0.22 | N | 0.417 | neutral | None | None | None | None | N |
| Q/K | 0.0566 | likely_benign | 0.0603 | benign | -0.102 | Destabilizing | None | N | 0.125 | neutral | N | 0.400860276 | None | None | N |
| Q/L | 0.0823 | likely_benign | 0.0812 | benign | 0.038 | Stabilizing | 0.081 | N | 0.25 | neutral | N | 0.477667621 | None | None | N |
| Q/M | 0.1965 | likely_benign | 0.1844 | benign | -0.045 | Destabilizing | 0.859 | D | 0.168 | neutral | None | None | None | None | N |
| Q/N | 0.1464 | likely_benign | 0.1359 | benign | -0.305 | Destabilizing | 0.104 | N | 0.151 | neutral | None | None | None | None | N |
| Q/P | 0.0472 | likely_benign | 0.0464 | benign | 0.02 | Stabilizing | None | N | 0.149 | neutral | N | 0.40669017 | None | None | N |
| Q/R | 0.0757 | likely_benign | 0.0829 | benign | 0.121 | Stabilizing | 0.042 | N | 0.203 | neutral | N | 0.447614073 | None | None | N |
| Q/S | 0.0916 | likely_benign | 0.0803 | benign | -0.288 | Destabilizing | 0.025 | N | 0.196 | neutral | None | None | None | None | N |
| Q/T | 0.0867 | likely_benign | 0.0792 | benign | -0.24 | Destabilizing | 0.002 | N | 0.145 | neutral | None | None | None | None | N |
| Q/V | 0.1057 | likely_benign | 0.1022 | benign | 0.02 | Stabilizing | 0.104 | N | 0.289 | neutral | None | None | None | None | N |
| Q/W | 0.3667 | ambiguous | 0.4448 | ambiguous | -0.634 | Destabilizing | 0.958 | D | 0.269 | neutral | None | None | None | None | N |
| Q/Y | 0.3256 | likely_benign | 0.3399 | benign | -0.339 | Destabilizing | 0.859 | D | 0.307 | 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.