Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3470 | 10633;10634;10635 | chr2:178757812;178757811;178757810 | chr2:179622539;179622538;179622537 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3424 | 10495;10496;10497 | chr2:178757812;178757811;178757810 | chr2:179622539;179622538;179622537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | None | None | None | 0.325 | None | gnomAD-4.0.0 | 6.8596E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01372E-07 | 0 | 0 |
| P/L | rs1331859754  |
-0.244 | None | None | None | 0.306 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1331859754 |
-0.244 | None | None | None | 0.306 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1331859754 |
-0.244 | None | None | None | 0.306 | None | gnomAD-4.0.0 | 2.57061E-06 | None | None | None | None | N | None | 0 | 3.39605E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs767525312 |
-0.891 | None | None | None | 0.325 | None | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/S | rs767525312 |
-0.891 | None | None | None | 0.325 | None | gnomAD-4.0.0 | 2.05788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70412E-06 | 0 | 0 |
| P/T | rs767525312 |
-0.812 | None | None | None | 0.329 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs767525312 |
-0.812 | None | None | None | 0.329 | None | gnomAD-4.0.0 | 1.37192E-06 | None | None | None | None | N | None | 0 | 2.2485E-05 | None | 0 | 0 | None | 0 | 0 | 9.01372E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.144 | likely_benign | None | None | -1.047 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/C | 0.7629 | likely_pathogenic | None | None | -0.703 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/D | 0.6655 | likely_pathogenic | None | None | -0.608 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/E | 0.4521 | ambiguous | None | None | -0.652 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/F | 0.7893 | likely_pathogenic | None | None | -0.883 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/G | 0.5104 | ambiguous | None | None | -1.307 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/H | 0.3181 | likely_benign | None | None | -0.812 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/I | 0.6335 | likely_pathogenic | None | None | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/K | 0.4182 | ambiguous | None | None | -0.82 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/L | 0.2583 | likely_benign | None | None | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/M | 0.5805 | likely_pathogenic | None | None | -0.387 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/N | 0.5359 | ambiguous | None | None | -0.537 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Q | 0.2364 | likely_benign | None | None | -0.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/R | 0.2708 | likely_benign | None | None | -0.309 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/S | 0.2338 | likely_benign | None | None | -1.032 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/T | 0.2342 | likely_benign | None | None | -0.965 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/V | 0.4478 | ambiguous | None | None | -0.622 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/W | 0.901 | likely_pathogenic | None | None | -1.012 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Y | 0.6553 | likely_pathogenic | None | None | -0.719 | Destabilizing | None | None | None | None | 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.