Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31902 | 95929;95930;95931 | chr2:178545406;178545405;178545404 | chr2:179410133;179410132;179410131 |
| N2AB | 30261 | 91006;91007;91008 | chr2:178545406;178545405;178545404 | chr2:179410133;179410132;179410131 |
| N2A | 29334 | 88225;88226;88227 | chr2:178545406;178545405;178545404 | chr2:179410133;179410132;179410131 |
| N2B | 22837 | 68734;68735;68736 | chr2:178545406;178545405;178545404 | chr2:179410133;179410132;179410131 |
| Novex-1 | 22962 | 69109;69110;69111 | chr2:178545406;178545405;178545404 | chr2:179410133;179410132;179410131 |
| Novex-2 | 23029 | 69310;69311;69312 | chr2:178545406;178545405;178545404 | chr2:179410133;179410132;179410131 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs770705757  |
-0.235 | None | N | 0.258 | 0.135 | 0.455448229734 | gnomAD-2.1.1 | 8.65E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.9E-05 | 0 |
| S/L | rs770705757 |
-0.235 | None | N | 0.258 | 0.135 | 0.455448229734 | gnomAD-4.0.0 | 1.05005E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.09901E-05 | 0 | 5.10743E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0641 | likely_benign | 0.0688 | benign | -0.675 | Destabilizing | None | N | 0.139 | neutral | N | 0.460001793 | None | None | N |
| S/C | 0.0657 | likely_benign | 0.0744 | benign | -0.441 | Destabilizing | 0.204 | N | 0.284 | neutral | None | None | None | None | N |
| S/D | 0.431 | ambiguous | 0.4127 | ambiguous | -0.174 | Destabilizing | 0.035 | N | 0.343 | neutral | None | None | None | None | N |
| S/E | 0.4201 | ambiguous | 0.3918 | ambiguous | -0.202 | Destabilizing | 0.015 | N | 0.273 | neutral | None | None | None | None | N |
| S/F | 0.108 | likely_benign | 0.1138 | benign | -0.958 | Destabilizing | 0.018 | N | 0.558 | neutral | None | None | None | None | N |
| S/G | 0.0956 | likely_benign | 0.0988 | benign | -0.896 | Destabilizing | 0.007 | N | 0.265 | neutral | None | None | None | None | N |
| S/H | 0.1721 | likely_benign | 0.1736 | benign | -1.401 | Destabilizing | None | N | 0.272 | neutral | None | None | None | None | N |
| S/I | 0.0812 | likely_benign | 0.0873 | benign | -0.2 | Destabilizing | 0.007 | N | 0.321 | neutral | None | None | None | None | N |
| S/K | 0.3736 | ambiguous | 0.3705 | ambiguous | -0.676 | Destabilizing | 0.015 | N | 0.274 | neutral | None | None | None | None | N |
| S/L | 0.069 | likely_benign | 0.0682 | benign | -0.2 | Destabilizing | None | N | 0.258 | neutral | N | 0.401204206 | None | None | N |
| S/M | 0.13 | likely_benign | 0.1462 | benign | 0.115 | Stabilizing | 0.112 | N | 0.403 | neutral | None | None | None | None | N |
| S/N | 0.107 | likely_benign | 0.1136 | benign | -0.546 | Destabilizing | 0.035 | N | 0.308 | neutral | None | None | None | None | N |
| S/P | 0.1155 | likely_benign | 0.1217 | benign | -0.325 | Destabilizing | 0.026 | N | 0.491 | neutral | N | 0.507814383 | None | None | N |
| S/Q | 0.2692 | likely_benign | 0.2732 | benign | -0.741 | Destabilizing | 0.068 | N | 0.435 | neutral | None | None | None | None | N |
| S/R | 0.2707 | likely_benign | 0.2714 | benign | -0.527 | Destabilizing | 0.035 | N | 0.436 | neutral | None | None | None | None | N |
| S/T | 0.0621 | likely_benign | 0.0694 | benign | -0.59 | Destabilizing | None | N | 0.197 | neutral | N | 0.389216344 | None | None | N |
| S/V | 0.0878 | likely_benign | 0.0995 | benign | -0.325 | Destabilizing | 0.007 | N | 0.363 | neutral | None | None | None | None | N |
| S/W | 0.2422 | likely_benign | 0.2305 | benign | -0.918 | Destabilizing | 0.747 | D | 0.525 | neutral | None | None | None | None | N |
| S/Y | 0.1178 | likely_benign | 0.1222 | benign | -0.661 | Destabilizing | 0.035 | N | 0.534 | 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.