Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23549 | 70870;70871;70872 | chr2:178575487;178575486;178575485 | chr2:179440214;179440213;179440212 |
| N2AB | 21908 | 65947;65948;65949 | chr2:178575487;178575486;178575485 | chr2:179440214;179440213;179440212 |
| N2A | 20981 | 63166;63167;63168 | chr2:178575487;178575486;178575485 | chr2:179440214;179440213;179440212 |
| N2B | 14484 | 43675;43676;43677 | chr2:178575487;178575486;178575485 | chr2:179440214;179440213;179440212 |
| Novex-1 | 14609 | 44050;44051;44052 | chr2:178575487;178575486;178575485 | chr2:179440214;179440213;179440212 |
| Novex-2 | 14676 | 44251;44252;44253 | chr2:178575487;178575486;178575485 | chr2:179440214;179440213;179440212 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs755669336  |
-0.043 | 0.992 | N | 0.597 | 0.186 | 0.511448588287 | gnomAD-2.1.1 | 5.72E-05 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 3.59269E-04 | None | 6.54E-05 | None | 0 | 3.92E-05 | 0 |
| V/I | rs755669336 |
-0.043 | 0.992 | N | 0.597 | 0.186 | 0.511448588287 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 5.8117E-04 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/I | rs755669336 |
-0.043 | 0.992 | N | 0.597 | 0.186 | 0.511448588287 | gnomAD-4.0.0 | 3.96647E-05 | None | None | None | None | N | None | 5.33931E-05 | 6.66822E-05 | None | 0 | 1.11498E-04 | None | 0 | 0 | 3.72989E-05 | 2.19587E-05 | 8.00589E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4776 | ambiguous | 0.492 | ambiguous | -2.077 | Highly Destabilizing | 0.262 | N | 0.258 | neutral | N | 0.486755959 | None | None | N |
| V/C | 0.9274 | likely_pathogenic | 0.9331 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/D | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -2.604 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.533246555 | None | None | N |
| V/E | 0.9946 | likely_pathogenic | 0.9944 | pathogenic | -2.297 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/F | 0.9193 | likely_pathogenic | 0.9096 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.515734504 | None | None | N |
| V/G | 0.8857 | likely_pathogenic | 0.8876 | pathogenic | -2.703 | Highly Destabilizing | 0.991 | D | 0.716 | prob.delet. | N | 0.509519986 | None | None | N |
| V/H | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/I | 0.1335 | likely_benign | 0.1366 | benign | -0.282 | Destabilizing | 0.992 | D | 0.597 | neutral | N | 0.515980001 | None | None | N |
| V/K | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| V/L | 0.6673 | likely_pathogenic | 0.658 | pathogenic | -0.282 | Destabilizing | 0.911 | D | 0.565 | neutral | N | 0.465640658 | None | None | N |
| V/M | 0.7198 | likely_pathogenic | 0.7191 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| V/N | 0.9939 | likely_pathogenic | 0.9937 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| V/P | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| V/Q | 0.9931 | likely_pathogenic | 0.9932 | pathogenic | -1.869 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| V/R | 0.9908 | likely_pathogenic | 0.9906 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/S | 0.9251 | likely_pathogenic | 0.9291 | pathogenic | -2.897 | Highly Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/T | 0.817 | likely_pathogenic | 0.8361 | pathogenic | -2.405 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| V/W | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/Y | 0.9934 | likely_pathogenic | 0.9933 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.777 | deleterious | 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.