Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17302 | 52129;52130;52131 | chr2:178609406;178609405;178609404 | chr2:179474133;179474132;179474131 |
| N2AB | 15661 | 47206;47207;47208 | chr2:178609406;178609405;178609404 | chr2:179474133;179474132;179474131 |
| N2A | 14734 | 44425;44426;44427 | chr2:178609406;178609405;178609404 | chr2:179474133;179474132;179474131 |
| N2B | 8237 | 24934;24935;24936 | chr2:178609406;178609405;178609404 | chr2:179474133;179474132;179474131 |
| Novex-1 | 8362 | 25309;25310;25311 | chr2:178609406;178609405;178609404 | chr2:179474133;179474132;179474131 |
| Novex-2 | 8429 | 25510;25511;25512 | chr2:178609406;178609405;178609404 | chr2:179474133;179474132;179474131 |
| 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/K | rs1347004429  |
None | 0.011 | N | 0.191 | 0.126 | 0.181679512989 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | rs1347004429 |
None | 0.011 | N | 0.191 | 0.126 | 0.181679512989 | gnomAD-4.0.0 | 4.0608E-06 | None | None | None | None | N | None | 1.7488E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61516E-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 | 0.2512 | likely_benign | 0.26 | benign | -0.069 | Destabilizing | 0.825 | D | 0.569 | neutral | None | None | None | None | N |
| R/C | 0.2091 | likely_benign | 0.2187 | benign | -0.411 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| R/D | 0.488 | ambiguous | 0.5075 | ambiguous | -0.431 | Destabilizing | 0.976 | D | 0.641 | neutral | None | None | None | None | N |
| R/E | 0.2678 | likely_benign | 0.2645 | benign | -0.409 | Destabilizing | 0.851 | D | 0.592 | neutral | None | None | None | None | N |
| R/F | 0.3989 | ambiguous | 0.382 | ambiguous | -0.439 | Destabilizing | 0.996 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/G | 0.1603 | likely_benign | 0.1642 | benign | -0.162 | Destabilizing | 0.896 | D | 0.584 | neutral | N | 0.489055264 | None | None | N |
| R/H | 0.1378 | likely_benign | 0.1407 | benign | -0.631 | Destabilizing | 0.996 | D | 0.635 | neutral | None | None | None | None | N |
| R/I | 0.1846 | likely_benign | 0.1856 | benign | 0.128 | Stabilizing | 0.988 | D | 0.71 | prob.delet. | None | None | None | None | N |
| R/K | 0.0891 | likely_benign | 0.0883 | benign | -0.367 | Destabilizing | 0.011 | N | 0.191 | neutral | N | 0.409839545 | None | None | N |
| R/L | 0.191 | likely_benign | 0.1939 | benign | 0.128 | Stabilizing | 0.919 | D | 0.584 | neutral | None | None | None | None | N |
| R/M | 0.247 | likely_benign | 0.2464 | benign | -0.25 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.489228622 | None | None | N |
| R/N | 0.4151 | ambiguous | 0.428 | ambiguous | -0.318 | Destabilizing | 0.919 | D | 0.591 | neutral | None | None | None | None | N |
| R/P | 0.1761 | likely_benign | 0.1775 | benign | 0.077 | Stabilizing | 0.988 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/Q | 0.1109 | likely_benign | 0.1097 | benign | -0.319 | Destabilizing | 0.919 | D | 0.627 | neutral | None | None | None | None | N |
| R/S | 0.3346 | likely_benign | 0.3473 | ambiguous | -0.423 | Destabilizing | 0.896 | D | 0.565 | neutral | N | 0.488188472 | None | None | N |
| R/T | 0.1904 | likely_benign | 0.1934 | benign | -0.321 | Destabilizing | 0.896 | D | 0.577 | neutral | N | 0.488535189 | None | None | N |
| R/V | 0.2229 | likely_benign | 0.2256 | benign | 0.077 | Stabilizing | 0.988 | D | 0.657 | neutral | None | None | None | None | N |
| R/W | 0.1919 | likely_benign | 0.1763 | benign | -0.676 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | N | 0.489575339 | None | None | N |
| R/Y | 0.334 | likely_benign | 0.3275 | benign | -0.302 | Destabilizing | 0.996 | D | 0.691 | prob.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.