Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5597 | 17014;17015;17016 | chr2:178732180;178732179;178732178 | chr2:179596907;179596906;179596905 |
| N2AB | 5280 | 16063;16064;16065 | chr2:178732180;178732179;178732178 | chr2:179596907;179596906;179596905 |
| N2A | 4353 | 13282;13283;13284 | chr2:178732180;178732179;178732178 | chr2:179596907;179596906;179596905 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs754116386  |
-0.846 | 0.988 | D | 0.535 | 0.385 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 4.69E-05 | 0 |
| S/F | rs754116386 |
-0.846 | 0.988 | D | 0.535 | 0.385 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs754116386 |
-0.846 | 0.988 | D | 0.535 | 0.385 | None | gnomAD-4.0.0 | 2.47882E-05 | None | None | None | None | N | None | 0 | 5.0005E-05 | None | 0 | 0 | None | 0 | 0 | 3.13618E-05 | 0 | 0 |
| S/P | rs757304144 |
-0.521 | 0.998 | N | 0.437 | 0.44 | 0.489174143269 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1011 | likely_benign | 0.1079 | benign | -0.605 | Destabilizing | 0.906 | D | 0.318 | neutral | D | 0.533768833 | None | None | N |
| S/C | 0.1757 | likely_benign | 0.2042 | benign | -0.378 | Destabilizing | 0.999 | D | 0.439 | neutral | N | 0.505762502 | None | None | N |
| S/D | 0.2503 | likely_benign | 0.2492 | benign | 0.423 | Stabilizing | 0.939 | D | 0.369 | neutral | None | None | None | None | N |
| S/E | 0.418 | ambiguous | 0.4243 | ambiguous | 0.432 | Stabilizing | 0.969 | D | 0.369 | neutral | None | None | None | None | N |
| S/F | 0.2281 | likely_benign | 0.2536 | benign | -0.896 | Destabilizing | 0.988 | D | 0.535 | neutral | D | 0.534945056 | None | None | N |
| S/G | 0.0867 | likely_benign | 0.0881 | benign | -0.845 | Destabilizing | 0.927 | D | 0.361 | neutral | None | None | None | None | N |
| S/H | 0.3045 | likely_benign | 0.3245 | benign | -1.264 | Destabilizing | 0.995 | D | 0.447 | neutral | None | None | None | None | N |
| S/I | 0.3462 | ambiguous | 0.3834 | ambiguous | -0.076 | Destabilizing | 0.939 | D | 0.474 | neutral | None | None | None | None | N |
| S/K | 0.5175 | ambiguous | 0.5396 | ambiguous | -0.307 | Destabilizing | 0.969 | D | 0.376 | neutral | None | None | None | None | N |
| S/L | 0.1335 | likely_benign | 0.1499 | benign | -0.076 | Destabilizing | 0.039 | N | 0.317 | neutral | None | None | None | None | N |
| S/M | 0.2112 | likely_benign | 0.2462 | benign | -0.027 | Destabilizing | 0.991 | D | 0.457 | neutral | None | None | None | None | N |
| S/N | 0.1024 | likely_benign | 0.1037 | benign | -0.318 | Destabilizing | 0.293 | N | 0.201 | neutral | None | None | None | None | N |
| S/P | 0.4107 | ambiguous | 0.4497 | ambiguous | -0.218 | Destabilizing | 0.998 | D | 0.437 | neutral | N | 0.520397264 | None | None | N |
| S/Q | 0.4221 | ambiguous | 0.4406 | ambiguous | -0.356 | Destabilizing | 0.995 | D | 0.449 | neutral | None | None | None | None | N |
| S/R | 0.5065 | ambiguous | 0.5049 | ambiguous | -0.338 | Destabilizing | 0.995 | D | 0.423 | neutral | None | None | None | None | N |
| S/T | 0.0988 | likely_benign | 0.1115 | benign | -0.361 | Destabilizing | 0.238 | N | 0.162 | neutral | D | 0.529133805 | None | None | N |
| S/V | 0.3072 | likely_benign | 0.3444 | ambiguous | -0.218 | Destabilizing | 0.939 | D | 0.477 | neutral | None | None | None | None | N |
| S/W | 0.3421 | ambiguous | 0.3678 | ambiguous | -0.905 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| S/Y | 0.1482 | likely_benign | 0.1569 | benign | -0.589 | Destabilizing | 0.998 | D | 0.548 | neutral | N | 0.488049868 | 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.