Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35373 | 106342;106343;106344 | chr2:178530498;178530497;178530496 | chr2:179395225;179395224;179395223 |
| N2AB | 33732 | 101419;101420;101421 | chr2:178530498;178530497;178530496 | chr2:179395225;179395224;179395223 |
| N2A | 32805 | 98638;98639;98640 | chr2:178530498;178530497;178530496 | chr2:179395225;179395224;179395223 |
| N2B | 26308 | 79147;79148;79149 | chr2:178530498;178530497;178530496 | chr2:179395225;179395224;179395223 |
| Novex-1 | 26433 | 79522;79523;79524 | chr2:178530498;178530497;178530496 | chr2:179395225;179395224;179395223 |
| Novex-2 | 26500 | 79723;79724;79725 | chr2:178530498;178530497;178530496 | chr2:179395225;179395224;179395223 |
| 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 | rs778126842  |
0.003 | 0.081 | N | 0.53 | 0.218 | 0.171388866994 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Q/K | rs778126842 |
0.003 | 0.081 | N | 0.53 | 0.218 | 0.171388866994 | gnomAD-4.0.0 | 6.15732E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 6.29577E-06 | 0 | 1.65634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2232 | likely_benign | 0.2162 | benign | -0.253 | Destabilizing | 0.025 | N | 0.375 | neutral | None | None | None | None | N |
| Q/C | 0.4219 | ambiguous | 0.3922 | ambiguous | 0.228 | Stabilizing | 0.958 | D | 0.569 | neutral | None | None | None | None | N |
| Q/D | 0.3492 | ambiguous | 0.3204 | benign | 0.005 | Stabilizing | 0.22 | N | 0.515 | neutral | None | None | None | None | N |
| Q/E | 0.1033 | likely_benign | 0.0973 | benign | -0.009 | Destabilizing | 0.042 | N | 0.419 | neutral | N | 0.483281298 | None | None | N |
| Q/F | 0.4994 | ambiguous | 0.4398 | ambiguous | -0.338 | Destabilizing | 0.497 | N | 0.609 | neutral | None | None | None | None | N |
| Q/G | 0.3206 | likely_benign | 0.2976 | benign | -0.474 | Destabilizing | 0.104 | N | 0.508 | neutral | None | None | None | None | N |
| Q/H | 0.1296 | likely_benign | 0.1128 | benign | -0.351 | Destabilizing | 0.001 | N | 0.307 | neutral | N | 0.507219737 | None | None | N |
| Q/I | 0.2661 | likely_benign | 0.2442 | benign | 0.25 | Stabilizing | 0.124 | N | 0.628 | neutral | None | None | None | None | N |
| Q/K | 0.0993 | likely_benign | 0.0941 | benign | 0.006 | Stabilizing | 0.081 | N | 0.53 | neutral | N | 0.493191647 | None | None | N |
| Q/L | 0.1211 | likely_benign | 0.1048 | benign | 0.25 | Stabilizing | 0.015 | N | 0.484 | neutral | N | 0.516031221 | None | None | N |
| Q/M | 0.3141 | likely_benign | 0.292 | benign | 0.507 | Stabilizing | 0.025 | N | 0.289 | neutral | None | None | None | None | N |
| Q/N | 0.214 | likely_benign | 0.1923 | benign | -0.263 | Destabilizing | 0.124 | N | 0.506 | neutral | None | None | None | None | N |
| Q/P | 0.1818 | likely_benign | 0.1896 | benign | 0.112 | Stabilizing | 0.301 | N | 0.625 | neutral | N | 0.485985953 | None | None | N |
| Q/R | 0.1107 | likely_benign | 0.1021 | benign | 0.166 | Stabilizing | 0.175 | N | 0.521 | neutral | N | 0.491807567 | None | None | N |
| Q/S | 0.2076 | likely_benign | 0.1933 | benign | -0.292 | Destabilizing | 0.005 | N | 0.181 | neutral | None | None | None | None | N |
| Q/T | 0.171 | likely_benign | 0.1608 | benign | -0.145 | Destabilizing | 0.055 | N | 0.531 | neutral | None | None | None | None | N |
| Q/V | 0.209 | likely_benign | 0.1931 | benign | 0.112 | Stabilizing | 0.124 | N | 0.558 | neutral | None | None | None | None | N |
| Q/W | 0.4082 | ambiguous | 0.3636 | ambiguous | -0.294 | Destabilizing | 0.958 | D | 0.568 | neutral | None | None | None | None | N |
| Q/Y | 0.3012 | likely_benign | 0.2507 | benign | -0.058 | Destabilizing | 0.331 | N | 0.625 | 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.