Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19845 | 59758;59759;59760 | chr2:178592472;178592471;178592470 | chr2:179457199;179457198;179457197 |
| N2AB | 18204 | 54835;54836;54837 | chr2:178592472;178592471;178592470 | chr2:179457199;179457198;179457197 |
| N2A | 17277 | 52054;52055;52056 | chr2:178592472;178592471;178592470 | chr2:179457199;179457198;179457197 |
| N2B | 10780 | 32563;32564;32565 | chr2:178592472;178592471;178592470 | chr2:179457199;179457198;179457197 |
| Novex-1 | 10905 | 32938;32939;32940 | chr2:178592472;178592471;178592470 | chr2:179457199;179457198;179457197 |
| Novex-2 | 10972 | 33139;33140;33141 | chr2:178592472;178592471;178592470 | chr2:179457199;179457198;179457197 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1232069163  |
-0.601 | 0.047 | N | 0.399 | 0.29 | 0.570337063641 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.5189E-04 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs1232069163 |
-0.601 | 0.047 | N | 0.399 | 0.29 | 0.570337063641 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs1232069163 |
-0.601 | 0.047 | N | 0.399 | 0.29 | 0.570337063641 | gnomAD-4.0.0 | 4.95855E-06 | None | None | None | None | N | None | 4.00577E-05 | 0 | None | 0 | 2.23174E-05 | None | 0 | 0 | 1.69546E-06 | 2.19621E-05 | 0 |
| R/H | rs201457934 |
-1.342 | 0.047 | N | 0.222 | 0.166 | None | gnomAD-2.1.1 | 1.04721E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11582E-04 | None | 3.27E-05 | None | 4.64E-05 | 1.96131E-04 | 0 |
| R/H | rs201457934 |
-1.342 | 0.047 | N | 0.222 | 0.166 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/H | rs201457934 |
-1.342 | 0.047 | N | 0.222 | 0.166 | None | gnomAD-4.0.0 | 4.46261E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.69703E-05 | None | 6.24805E-05 | 0 | 5.00162E-05 | 1.09806E-05 | 8.00692E-05 |
| R/L | rs201457934 |
0.097 | 0.608 | N | 0.409 | 0.306 | 0.567930657579 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/L | rs201457934 |
0.097 | 0.608 | N | 0.409 | 0.306 | 0.567930657579 | gnomAD-4.0.0 | 2.73727E-06 | None | None | None | None | N | None | 0 | 6.71021E-05 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2392 | likely_benign | 0.2269 | benign | -0.23 | Destabilizing | 0.25 | N | 0.383 | neutral | None | None | None | None | N |
| R/C | 0.1391 | likely_benign | 0.1369 | benign | -0.257 | Destabilizing | 0.047 | N | 0.399 | neutral | N | 0.504686092 | None | None | N |
| R/D | 0.4766 | ambiguous | 0.4673 | ambiguous | -0.024 | Destabilizing | 0.85 | D | 0.396 | neutral | None | None | None | None | N |
| R/E | 0.2492 | likely_benign | 0.244 | benign | 0.053 | Stabilizing | 0.617 | D | 0.333 | neutral | None | None | None | None | N |
| R/F | 0.4115 | ambiguous | 0.3923 | ambiguous | -0.357 | Destabilizing | 0.85 | D | 0.441 | neutral | None | None | None | None | N |
| R/G | 0.1764 | likely_benign | 0.1648 | benign | -0.463 | Destabilizing | 0.756 | D | 0.419 | neutral | N | 0.487796378 | None | None | N |
| R/H | 0.0908 | likely_benign | 0.094 | benign | -0.902 | Destabilizing | 0.047 | N | 0.222 | neutral | N | 0.515473861 | None | None | N |
| R/I | 0.1907 | likely_benign | 0.1819 | benign | 0.361 | Stabilizing | 0.85 | D | 0.433 | neutral | None | None | None | None | N |
| R/K | 0.0965 | likely_benign | 0.092 | benign | -0.259 | Destabilizing | 0.4 | N | 0.365 | neutral | None | None | None | None | N |
| R/L | 0.1788 | likely_benign | 0.1749 | benign | 0.361 | Stabilizing | 0.608 | D | 0.409 | neutral | N | 0.513876351 | None | None | N |
| R/M | 0.2168 | likely_benign | 0.2105 | benign | 0.013 | Stabilizing | 0.992 | D | 0.383 | neutral | None | None | None | None | N |
| R/N | 0.4002 | ambiguous | 0.3746 | ambiguous | 0.129 | Stabilizing | 0.447 | N | 0.367 | neutral | None | None | None | None | N |
| R/P | 0.2305 | likely_benign | 0.2323 | benign | 0.185 | Stabilizing | 0.957 | D | 0.419 | neutral | N | 0.500485766 | None | None | N |
| R/Q | 0.0876 | likely_benign | 0.0874 | benign | -0.037 | Destabilizing | 0.85 | D | 0.406 | neutral | None | None | None | None | N |
| R/S | 0.3122 | likely_benign | 0.3004 | benign | -0.382 | Destabilizing | 0.108 | N | 0.245 | neutral | N | 0.489785983 | None | None | N |
| R/T | 0.1491 | likely_benign | 0.1489 | benign | -0.155 | Destabilizing | 0.447 | N | 0.375 | neutral | None | None | None | None | N |
| R/V | 0.2364 | likely_benign | 0.2326 | benign | 0.185 | Stabilizing | 0.739 | D | 0.411 | neutral | None | None | None | None | N |
| R/W | 0.134 | likely_benign | 0.1361 | benign | -0.269 | Destabilizing | 0.992 | D | 0.492 | neutral | None | None | None | None | N |
| R/Y | 0.3027 | likely_benign | 0.2921 | benign | 0.109 | Stabilizing | 0.739 | D | 0.429 | 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.