Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18325 | 55198;55199;55200 | chr2:178602429;178602428;178602427 | chr2:179467156;179467155;179467154 |
| N2AB | 16684 | 50275;50276;50277 | chr2:178602429;178602428;178602427 | chr2:179467156;179467155;179467154 |
| N2A | 15757 | 47494;47495;47496 | chr2:178602429;178602428;178602427 | chr2:179467156;179467155;179467154 |
| N2B | 9260 | 28003;28004;28005 | chr2:178602429;178602428;178602427 | chr2:179467156;179467155;179467154 |
| Novex-1 | 9385 | 28378;28379;28380 | chr2:178602429;178602428;178602427 | chr2:179467156;179467155;179467154 |
| Novex-2 | 9452 | 28579;28580;28581 | chr2:178602429;178602428;178602427 | chr2:179467156;179467155;179467154 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs374713945  |
-1.755 | 0.051 | N | 0.241 | 0.116 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| P/A | rs374713945 |
-1.755 | 0.051 | N | 0.241 | 0.116 | None | gnomAD-4.0.0 | 1.3693E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99854E-07 | 1.1599E-05 | 0 |
| P/R | rs879091548 |
-0.757 | 0.876 | N | 0.443 | 0.237 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/R | rs879091548 |
-0.757 | 0.876 | N | 0.443 | 0.237 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs879091548 |
-0.757 | 0.876 | N | 0.443 | 0.237 | None | gnomAD-4.0.0 | 5.13256E-06 | None | None | None | None | N | None | 1.6952E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18924E-06 | 0 | 0 |
| P/S | None | None | 0.669 | N | 0.395 | 0.171 | 0.241078983079 | gnomAD-4.0.0 | 2.05396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69956E-06 | 0 | 0 |
| P/T | None | None | 0.801 | N | 0.43 | 0.206 | 0.292787519742 | gnomAD-4.0.0 | 4.79256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39912E-06 | 0 | 1.65815E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0651 | likely_benign | 0.0717 | benign | -0.276 | Destabilizing | 0.051 | N | 0.241 | neutral | N | 0.450643231 | None | None | N |
| P/C | 0.4276 | ambiguous | 0.4812 | ambiguous | -0.555 | Destabilizing | 0.998 | D | 0.508 | neutral | None | None | None | None | N |
| P/D | 0.2344 | likely_benign | 0.2487 | benign | -0.43 | Destabilizing | 0.974 | D | 0.43 | neutral | None | None | None | None | N |
| P/E | 0.1687 | likely_benign | 0.1832 | benign | -0.553 | Destabilizing | 0.842 | D | 0.415 | neutral | None | None | None | None | N |
| P/F | 0.3967 | ambiguous | 0.4654 | ambiguous | -0.642 | Destabilizing | 0.974 | D | 0.509 | neutral | None | None | None | None | N |
| P/G | 0.1796 | likely_benign | 0.1983 | benign | -0.367 | Destabilizing | 0.016 | N | 0.312 | neutral | None | None | None | None | N |
| P/H | 0.1688 | likely_benign | 0.1943 | benign | -0.012 | Destabilizing | 0.998 | D | 0.455 | neutral | None | None | None | None | N |
| P/I | 0.2206 | likely_benign | 0.2671 | benign | -0.187 | Destabilizing | 0.904 | D | 0.455 | neutral | None | None | None | None | N |
| P/K | 0.1629 | likely_benign | 0.1755 | benign | -0.358 | Destabilizing | 0.142 | N | 0.249 | neutral | None | None | None | None | N |
| P/L | 0.1069 | likely_benign | 0.1268 | benign | -0.187 | Destabilizing | 0.669 | D | 0.429 | neutral | N | 0.474944242 | None | None | N |
| P/M | 0.214 | likely_benign | 0.2448 | benign | -0.386 | Destabilizing | 0.993 | D | 0.455 | neutral | None | None | None | None | N |
| P/N | 0.1985 | likely_benign | 0.2263 | benign | -0.064 | Destabilizing | 0.949 | D | 0.46 | neutral | None | None | None | None | N |
| P/Q | 0.1239 | likely_benign | 0.1441 | benign | -0.313 | Destabilizing | 0.934 | D | 0.474 | neutral | N | 0.456358481 | None | None | N |
| P/R | 0.1449 | likely_benign | 0.1558 | benign | 0.127 | Stabilizing | 0.876 | D | 0.443 | neutral | N | 0.443525257 | None | None | N |
| P/S | 0.1016 | likely_benign | 0.1145 | benign | -0.342 | Destabilizing | 0.669 | D | 0.395 | neutral | N | 0.438500653 | None | None | N |
| P/T | 0.0771 | likely_benign | 0.0841 | benign | -0.372 | Destabilizing | 0.801 | D | 0.43 | neutral | N | 0.411951556 | None | None | N |
| P/V | 0.1536 | likely_benign | 0.1782 | benign | -0.185 | Destabilizing | 0.142 | N | 0.324 | neutral | None | None | None | None | N |
| P/W | 0.5207 | ambiguous | 0.5524 | ambiguous | -0.73 | Destabilizing | 0.998 | D | 0.59 | neutral | None | None | None | None | N |
| P/Y | 0.3575 | ambiguous | 0.4064 | ambiguous | -0.424 | Destabilizing | 0.991 | D | 0.511 | 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.