Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5209 | 15850;15851;15852 | chr2:178733764;178733763;178733762 | chr2:179598491;179598490;179598489 |
| N2AB | 4892 | 14899;14900;14901 | chr2:178733764;178733763;178733762 | chr2:179598491;179598490;179598489 |
| N2A | 3965 | 12118;12119;12120 | chr2:178733764;178733763;178733762 | chr2:179598491;179598490;179598489 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1392727449  |
-0.11 | 0.117 | N | 0.411 | 0.127 | 0.453401982733 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| R/G | rs1392727449 |
-0.11 | 0.117 | N | 0.411 | 0.127 | 0.453401982733 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/G | rs1392727449 |
-0.11 | 0.117 | N | 0.411 | 0.127 | 0.453401982733 | gnomAD-4.0.0 | 2.56194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78588E-06 | 0 | 0 |
| R/K | None | None | None | N | 0.179 | 0.086 | 0.136095386433 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1295 | likely_benign | 0.1473 | benign | 0.083 | Stabilizing | 0.035 | N | 0.379 | neutral | None | None | None | None | N |
| R/C | 0.1894 | likely_benign | 0.2051 | benign | -0.255 | Destabilizing | 0.935 | D | 0.397 | neutral | None | None | None | None | N |
| R/D | 0.2729 | likely_benign | 0.3141 | benign | -0.352 | Destabilizing | 0.149 | N | 0.413 | neutral | None | None | None | None | N |
| R/E | 0.1181 | likely_benign | 0.1245 | benign | -0.309 | Destabilizing | 0.035 | N | 0.376 | neutral | None | None | None | None | N |
| R/F | 0.2941 | likely_benign | 0.3297 | benign | -0.233 | Destabilizing | 0.791 | D | 0.391 | neutral | None | None | None | None | N |
| R/G | 0.0978 | likely_benign | 0.1096 | benign | -0.055 | Destabilizing | 0.117 | N | 0.411 | neutral | N | 0.506521416 | None | None | N |
| R/H | 0.1044 | likely_benign | 0.1114 | benign | -0.573 | Destabilizing | 0.555 | D | 0.377 | neutral | None | None | None | None | N |
| R/I | 0.1277 | likely_benign | 0.1452 | benign | 0.402 | Stabilizing | 0.484 | N | 0.4 | neutral | D | 0.541123585 | None | None | N |
| R/K | 0.057 | likely_benign | 0.0565 | benign | -0.168 | Destabilizing | None | N | 0.179 | neutral | N | 0.500829036 | None | None | N |
| R/L | 0.1138 | likely_benign | 0.1264 | benign | 0.402 | Stabilizing | 0.149 | N | 0.411 | neutral | None | None | None | None | N |
| R/M | 0.122 | likely_benign | 0.1292 | benign | -0.093 | Destabilizing | 0.555 | D | 0.385 | neutral | None | None | None | None | N |
| R/N | 0.2037 | likely_benign | 0.2291 | benign | -0.126 | Destabilizing | 0.149 | N | 0.356 | neutral | None | None | None | None | N |
| R/P | 0.2128 | likely_benign | 0.2544 | benign | 0.314 | Stabilizing | 0.555 | D | 0.359 | neutral | None | None | None | None | N |
| R/Q | 0.075 | likely_benign | 0.0765 | benign | -0.134 | Destabilizing | 0.002 | N | 0.268 | neutral | None | None | None | None | N |
| R/S | 0.1519 | likely_benign | 0.1722 | benign | -0.252 | Destabilizing | 0.062 | N | 0.382 | neutral | N | 0.509101089 | None | None | N |
| R/T | 0.0857 | likely_benign | 0.0935 | benign | -0.105 | Destabilizing | 0.117 | N | 0.399 | neutral | N | 0.506833085 | None | None | N |
| R/V | 0.1466 | likely_benign | 0.1613 | benign | 0.314 | Stabilizing | 0.149 | N | 0.371 | neutral | None | None | None | None | N |
| R/W | 0.1353 | likely_benign | 0.1419 | benign | -0.442 | Destabilizing | 0.935 | D | 0.415 | neutral | None | None | None | None | N |
| R/Y | 0.2393 | likely_benign | 0.2684 | benign | -0.036 | Destabilizing | 0.555 | D | 0.395 | 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.