Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31031 | 93316;93317;93318 | chr2:178548535;178548534;178548533 | chr2:179413262;179413261;179413260 |
| N2AB | 29390 | 88393;88394;88395 | chr2:178548535;178548534;178548533 | chr2:179413262;179413261;179413260 |
| N2A | 28463 | 85612;85613;85614 | chr2:178548535;178548534;178548533 | chr2:179413262;179413261;179413260 |
| N2B | 21966 | 66121;66122;66123 | chr2:178548535;178548534;178548533 | chr2:179413262;179413261;179413260 |
| Novex-1 | 22091 | 66496;66497;66498 | chr2:178548535;178548534;178548533 | chr2:179413262;179413261;179413260 |
| Novex-2 | 22158 | 66697;66698;66699 | chr2:178548535;178548534;178548533 | chr2:179413262;179413261;179413260 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs780711664  |
-0.895 | 0.002 | N | 0.334 | 0.134 | 0.200317383148 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11309E-04 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs780711664 |
-0.895 | 0.002 | N | 0.334 | 0.134 | 0.200317383148 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs780711664 |
-0.895 | 0.002 | N | 0.334 | 0.134 | 0.200317383148 | gnomAD-4.0.0 | 2.47872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.6839E-05 | None | 0 | 0 | 8.47591E-07 | 0 | 0 |
| G/V | None | None | 0.331 | N | 0.485 | 0.145 | 0.317378411342 | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1935 | likely_benign | 0.1902 | benign | -0.685 | Destabilizing | 0.124 | N | 0.383 | neutral | N | 0.448042856 | None | None | N |
| G/C | 0.2632 | likely_benign | 0.2593 | benign | -1.014 | Destabilizing | 0.968 | D | 0.567 | neutral | None | None | None | None | N |
| G/D | 0.313 | likely_benign | 0.2832 | benign | -1.481 | Destabilizing | 0.003 | N | 0.278 | neutral | None | None | None | None | N |
| G/E | 0.326 | likely_benign | 0.2872 | benign | -1.619 | Destabilizing | 0.002 | N | 0.334 | neutral | N | 0.388802551 | None | None | N |
| G/F | 0.6156 | likely_pathogenic | 0.5932 | pathogenic | -1.439 | Destabilizing | 0.726 | D | 0.535 | neutral | None | None | None | None | N |
| G/H | 0.4145 | ambiguous | 0.3966 | ambiguous | -1.0 | Destabilizing | 0.909 | D | 0.483 | neutral | None | None | None | None | N |
| G/I | 0.5493 | ambiguous | 0.4612 | ambiguous | -0.67 | Destabilizing | 0.567 | D | 0.53 | neutral | None | None | None | None | N |
| G/K | 0.5367 | ambiguous | 0.454 | ambiguous | -1.073 | Destabilizing | 0.011 | N | 0.34 | neutral | None | None | None | None | N |
| G/L | 0.5316 | ambiguous | 0.5038 | ambiguous | -0.67 | Destabilizing | 0.396 | N | 0.485 | neutral | None | None | None | None | N |
| G/M | 0.5628 | ambiguous | 0.5224 | ambiguous | -0.422 | Destabilizing | 0.968 | D | 0.525 | neutral | None | None | None | None | N |
| G/N | 0.269 | likely_benign | 0.2689 | benign | -0.786 | Destabilizing | 0.157 | N | 0.407 | neutral | None | None | None | None | N |
| G/P | 0.9608 | likely_pathogenic | 0.9452 | pathogenic | -0.641 | Destabilizing | 0.726 | D | 0.467 | neutral | None | None | None | None | N |
| G/Q | 0.368 | ambiguous | 0.3308 | benign | -1.152 | Destabilizing | 0.396 | N | 0.472 | neutral | None | None | None | None | N |
| G/R | 0.4112 | ambiguous | 0.3593 | ambiguous | -0.581 | Destabilizing | 0.002 | N | 0.418 | neutral | N | 0.442231604 | None | None | N |
| G/S | 0.1143 | likely_benign | 0.1216 | benign | -0.903 | Destabilizing | 0.157 | N | 0.407 | neutral | None | None | None | None | N |
| G/T | 0.1914 | likely_benign | 0.1681 | benign | -0.989 | Destabilizing | 0.011 | N | 0.352 | neutral | None | None | None | None | N |
| G/V | 0.4035 | ambiguous | 0.348 | ambiguous | -0.641 | Destabilizing | 0.331 | N | 0.485 | neutral | N | 0.505859008 | None | None | N |
| G/W | 0.5122 | ambiguous | 0.4682 | ambiguous | -1.603 | Destabilizing | 0.968 | D | 0.558 | neutral | None | None | None | None | N |
| G/Y | 0.4818 | ambiguous | 0.472 | ambiguous | -1.245 | Destabilizing | 0.89 | D | 0.535 | 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.