Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35962 | 108109;108110;108111 | chr2:178527104;178527103;178527102 | chr2:179391831;179391830;179391829 |
| N2AB | 34321 | 103186;103187;103188 | chr2:178527104;178527103;178527102 | chr2:179391831;179391830;179391829 |
| N2A | 33394 | 100405;100406;100407 | chr2:178527104;178527103;178527102 | chr2:179391831;179391830;179391829 |
| N2B | 26897 | 80914;80915;80916 | chr2:178527104;178527103;178527102 | chr2:179391831;179391830;179391829 |
| Novex-1 | 27022 | 81289;81290;81291 | chr2:178527104;178527103;178527102 | chr2:179391831;179391830;179391829 |
| Novex-2 | 27089 | 81490;81491;81492 | chr2:178527104;178527103;178527102 | chr2:179391831;179391830;179391829 |
| 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/K | None | None | None | N | 0.105 | 0.145 | 0.141422826196 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | -0.827(OBSL1) -0.644(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4448 | ambiguous | 0.4854 | ambiguous | -0.585 | Destabilizing | 0.016 | N | 0.334 | neutral | None | None | None | -0.451(OBSL1) -0.141(OBSCN) | N |
| Q/C | 0.7291 | likely_pathogenic | 0.7564 | pathogenic | 0.001 | Stabilizing | 0.864 | D | 0.368 | neutral | None | None | None | -1.025(OBSL1) -0.224(OBSCN) | N |
| Q/D | 0.611 | likely_pathogenic | 0.6781 | pathogenic | -0.591 | Destabilizing | 0.072 | N | 0.169 | neutral | None | None | None | -0.808(OBSL1) -0.418(OBSCN) | N |
| Q/E | 0.1189 | likely_benign | 0.1265 | benign | -0.497 | Destabilizing | 0.012 | N | 0.251 | neutral | N | 0.490498059 | None | -0.902(OBSL1) -0.529(OBSCN) | N |
| Q/F | 0.8648 | likely_pathogenic | 0.8756 | pathogenic | -0.29 | Destabilizing | 0.214 | N | 0.382 | neutral | None | None | None | -0.314(OBSL1) -0.433(OBSCN) | N |
| Q/G | 0.3862 | ambiguous | 0.4169 | ambiguous | -0.944 | Destabilizing | 0.031 | N | 0.35 | neutral | None | None | None | -0.463(OBSL1) -0.146(OBSCN) | N |
| Q/H | 0.3401 | ambiguous | 0.3843 | ambiguous | -0.803 | Destabilizing | None | N | 0.229 | neutral | D | 0.530886031 | None | 0.021(OBSL1) 0.118(OBSCN) | N |
| Q/I | 0.7057 | likely_pathogenic | 0.7268 | pathogenic | 0.327 | Stabilizing | 0.356 | N | 0.406 | neutral | None | None | None | -0.479(OBSL1) -0.178(OBSCN) | N |
| Q/K | 0.0897 | likely_benign | 0.0918 | benign | -0.36 | Destabilizing | None | N | 0.105 | neutral | N | 0.454211971 | None | -0.827(OBSL1) -0.644(OBSCN) | N |
| Q/L | 0.2517 | likely_benign | 0.254 | benign | 0.327 | Stabilizing | 0.055 | N | 0.356 | neutral | D | 0.532598184 | None | -0.479(OBSL1) -0.178(OBSCN) | N |
| Q/M | 0.5724 | likely_pathogenic | 0.5936 | pathogenic | 0.783 | Stabilizing | 0.628 | D | 0.287 | neutral | None | None | None | -0.556(OBSL1) 0.363(OBSCN) | N |
| Q/N | 0.4553 | ambiguous | 0.5021 | ambiguous | -0.937 | Destabilizing | 0.038 | N | 0.175 | neutral | None | None | None | -0.167(OBSL1) -0.52(OBSCN) | N |
| Q/P | 0.7265 | likely_pathogenic | 0.7791 | pathogenic | 0.055 | Stabilizing | 0.106 | N | 0.352 | neutral | D | 0.524209152 | None | -0.458(OBSL1) -0.156(OBSCN) | N |
| Q/R | 0.1004 | likely_benign | 0.0989 | benign | -0.294 | Destabilizing | None | N | 0.113 | neutral | N | 0.477859622 | None | -0.711(OBSL1) -0.631(OBSCN) | N |
| Q/S | 0.4549 | ambiguous | 0.5128 | ambiguous | -1.008 | Destabilizing | 0.031 | N | 0.208 | neutral | None | None | None | -0.423(OBSL1) -0.396(OBSCN) | N |
| Q/T | 0.382 | ambiguous | 0.4336 | ambiguous | -0.717 | Destabilizing | 0.072 | N | 0.293 | neutral | None | None | None | -0.462(OBSL1) -0.413(OBSCN) | N |
| Q/V | 0.527 | ambiguous | 0.5527 | ambiguous | 0.055 | Stabilizing | 0.072 | N | 0.38 | neutral | None | None | None | -0.458(OBSL1) -0.156(OBSCN) | N |
| Q/W | 0.7093 | likely_pathogenic | 0.698 | pathogenic | -0.18 | Destabilizing | 0.864 | D | 0.369 | neutral | None | None | None | -0.381(OBSL1) -0.631(OBSCN) | N |
| Q/Y | 0.7268 | likely_pathogenic | 0.737 | pathogenic | 0.045 | Stabilizing | 0.12 | N | 0.355 | neutral | None | None | None | -0.099(OBSL1) -0.29(OBSCN) | 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.