Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7919 | 23980;23981;23982 | chr2:178719737;178719736;178719735 | chr2:179584464;179584463;179584462 |
| N2AB | 7602 | 23029;23030;23031 | chr2:178719737;178719736;178719735 | chr2:179584464;179584463;179584462 |
| N2A | 6675 | 20248;20249;20250 | chr2:178719737;178719736;178719735 | chr2:179584464;179584463;179584462 |
| 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/A | rs77183835  |
None | 0.019 | N | 0.213 | 0.081 | 0.187945064343 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/A | rs77183835 |
None | 0.019 | N | 0.213 | 0.081 | 0.187945064343 | gnomAD-4.0.0 | 6.84249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| S/P | None | None | 0.301 | N | 0.456 | 0.389 | 0.251639045875 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-06 | 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 | 0.0769 | likely_benign | 0.0771 | benign | -0.447 | Destabilizing | 0.019 | N | 0.213 | neutral | N | 0.490963157 | None | None | N |
| S/C | 0.1192 | likely_benign | 0.1202 | benign | -0.396 | Destabilizing | 0.667 | D | 0.421 | neutral | None | None | None | None | N |
| S/D | 0.238 | likely_benign | 0.2422 | benign | 0.212 | Stabilizing | 0.22 | N | 0.302 | neutral | None | None | None | None | N |
| S/E | 0.2715 | likely_benign | 0.2835 | benign | 0.22 | Stabilizing | 0.055 | N | 0.28 | neutral | None | None | None | None | N |
| S/F | 0.1209 | likely_benign | 0.1265 | benign | -0.7 | Destabilizing | 0.001 | N | 0.278 | neutral | None | None | None | None | N |
| S/G | 0.1076 | likely_benign | 0.1119 | benign | -0.684 | Destabilizing | 0.104 | N | 0.266 | neutral | None | None | None | None | N |
| S/H | 0.1915 | likely_benign | 0.1938 | benign | -1.009 | Destabilizing | 0.667 | D | 0.414 | neutral | None | None | None | None | N |
| S/I | 0.0951 | likely_benign | 0.0983 | benign | 0.068 | Stabilizing | None | N | 0.227 | neutral | None | None | None | None | N |
| S/K | 0.3393 | likely_benign | 0.3466 | ambiguous | -0.404 | Destabilizing | None | N | 0.055 | neutral | None | None | None | None | N |
| S/L | 0.0773 | likely_benign | 0.0783 | benign | 0.068 | Stabilizing | 0.019 | N | 0.259 | neutral | N | 0.495927134 | None | None | N |
| S/M | 0.1415 | likely_benign | 0.1375 | benign | -0.013 | Destabilizing | 0.497 | N | 0.431 | neutral | None | None | None | None | N |
| S/N | 0.1037 | likely_benign | 0.099 | benign | -0.399 | Destabilizing | 0.22 | N | 0.298 | neutral | None | None | None | None | N |
| S/P | 0.4773 | ambiguous | 0.5163 | ambiguous | -0.069 | Destabilizing | 0.301 | N | 0.456 | neutral | N | 0.50943626 | None | None | N |
| S/Q | 0.2857 | likely_benign | 0.2961 | benign | -0.439 | Destabilizing | 0.124 | N | 0.389 | neutral | None | None | None | None | N |
| S/R | 0.2693 | likely_benign | 0.2828 | benign | -0.343 | Destabilizing | 0.124 | N | 0.456 | neutral | None | None | None | None | N |
| S/T | 0.0575 | likely_benign | 0.0559 | benign | -0.406 | Destabilizing | None | N | 0.042 | neutral | N | 0.441034817 | None | None | N |
| S/V | 0.1179 | likely_benign | 0.1167 | benign | -0.069 | Destabilizing | None | N | 0.189 | neutral | None | None | None | None | N |
| S/W | 0.2088 | likely_benign | 0.2408 | benign | -0.758 | Destabilizing | 0.958 | D | 0.487 | neutral | None | None | None | None | N |
| S/Y | 0.1255 | likely_benign | 0.1316 | benign | -0.432 | Destabilizing | 0.124 | N | 0.571 | 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.