Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2360 | 7303;7304;7305 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
| N2AB | 2360 | 7303;7304;7305 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
| N2A | 2360 | 7303;7304;7305 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
| N2B | 2314 | 7165;7166;7167 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
| Novex-1 | 2314 | 7165;7166;7167 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
| Novex-2 | 2314 | 7165;7166;7167 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
| Novex-3 | 2360 | 7303;7304;7305 | chr2:178774090;178774089;178774088 | chr2:179638817;179638816;179638815 |
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/R | rs796903749  |
0.367 | 0.997 | N | 0.46 | 0.48 | 0.357724736475 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs796903749 |
0.367 | 0.997 | N | 0.46 | 0.48 | 0.357724736475 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.8506E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs796903749 |
0.367 | 0.997 | N | 0.46 | 0.48 | 0.357724736475 | gnomAD-4.0.0 | 3.8421E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.27202E-05 | None | 0 | 0 | 0 | 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 | 0.3345 | likely_benign | 0.3551 | ambiguous | -0.495 | Destabilizing | 0.993 | D | 0.477 | neutral | None | None | None | None | N |
| Q/C | 0.8169 | likely_pathogenic | 0.8306 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| Q/D | 0.639 | likely_pathogenic | 0.6507 | pathogenic | -0.089 | Destabilizing | 0.998 | D | 0.425 | neutral | None | None | None | None | N |
| Q/E | 0.1259 | likely_benign | 0.1241 | benign | -0.056 | Destabilizing | 0.992 | D | 0.423 | neutral | D | 0.551482443 | None | None | N |
| Q/F | 0.8534 | likely_pathogenic | 0.8734 | pathogenic | -0.37 | Destabilizing | 0.996 | D | 0.655 | neutral | None | None | None | None | N |
| Q/G | 0.4774 | ambiguous | 0.4871 | ambiguous | -0.777 | Destabilizing | 0.998 | D | 0.52 | neutral | None | None | None | None | N |
| Q/H | 0.2994 | likely_benign | 0.3228 | benign | -0.556 | Destabilizing | 0.999 | D | 0.504 | neutral | D | 0.544122021 | None | None | N |
| Q/I | 0.5968 | likely_pathogenic | 0.6497 | pathogenic | 0.186 | Stabilizing | 0.991 | D | 0.559 | neutral | None | None | None | None | N |
| Q/K | 0.1707 | likely_benign | 0.1837 | benign | -0.175 | Destabilizing | 0.997 | D | 0.449 | neutral | N | 0.479651243 | None | None | N |
| Q/L | 0.2343 | likely_benign | 0.2585 | benign | 0.186 | Stabilizing | 0.135 | N | 0.291 | neutral | N | 0.510082816 | None | None | N |
| Q/M | 0.5086 | ambiguous | 0.5322 | ambiguous | 0.489 | Stabilizing | 0.996 | D | 0.513 | neutral | None | None | None | None | N |
| Q/N | 0.4364 | ambiguous | 0.4683 | ambiguous | -0.637 | Destabilizing | 0.999 | D | 0.466 | neutral | None | None | None | None | N |
| Q/P | 0.7453 | likely_pathogenic | 0.7902 | pathogenic | -0.011 | Destabilizing | 0.999 | D | 0.577 | neutral | D | 0.639556213 | None | None | N |
| Q/R | 0.2005 | likely_benign | 0.21 | benign | -0.016 | Destabilizing | 0.997 | D | 0.46 | neutral | N | 0.51518375 | None | None | N |
| Q/S | 0.3635 | ambiguous | 0.3775 | ambiguous | -0.697 | Destabilizing | 0.998 | D | 0.417 | neutral | None | None | None | None | N |
| Q/T | 0.2974 | likely_benign | 0.3284 | benign | -0.483 | Destabilizing | 0.993 | D | 0.478 | neutral | None | None | None | None | N |
| Q/V | 0.3958 | ambiguous | 0.4394 | ambiguous | -0.011 | Destabilizing | 0.971 | D | 0.5 | neutral | None | None | None | None | N |
| Q/W | 0.7934 | likely_pathogenic | 0.8037 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| Q/Y | 0.668 | likely_pathogenic | 0.6924 | pathogenic | -0.047 | Destabilizing | 0.999 | D | 0.591 | 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.