Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17654 | 53185;53186;53187 | chr2:178607827;178607826;178607825 | chr2:179472554;179472553;179472552 |
| N2AB | 16013 | 48262;48263;48264 | chr2:178607827;178607826;178607825 | chr2:179472554;179472553;179472552 |
| N2A | 15086 | 45481;45482;45483 | chr2:178607827;178607826;178607825 | chr2:179472554;179472553;179472552 |
| N2B | 8589 | 25990;25991;25992 | chr2:178607827;178607826;178607825 | chr2:179472554;179472553;179472552 |
| Novex-1 | 8714 | 26365;26366;26367 | chr2:178607827;178607826;178607825 | chr2:179472554;179472553;179472552 |
| Novex-2 | 8781 | 26566;26567;26568 | chr2:178607827;178607826;178607825 | chr2:179472554;179472553;179472552 |
| 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/L | rs762800771  |
-0.361 | 0.985 | N | 0.518 | 0.333 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.6852E-04 | None | 1.30727E-04 | None | 0 | 0 | 0 |
| P/L | rs762800771 |
-0.361 | 0.985 | N | 0.518 | 0.333 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96902E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs762800771 |
-0.361 | 0.985 | N | 0.518 | 0.333 | None | gnomAD-4.0.0 | 1.17806E-05 | None | None | None | None | N | None | 0 | 5.00584E-05 | None | 0 | 8.94895E-05 | None | 0 | 0 | 5.9356E-06 | 5.49052E-05 | 0 |
| P/R | rs762800771 |
0.071 | 0.99 | N | 0.507 | 0.409 | 0.451504584351 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs762800771 |
0.071 | 0.99 | N | 0.507 | 0.409 | 0.451504584351 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs762800771 |
0.071 | 0.99 | N | 0.507 | 0.409 | 0.451504584351 | gnomAD-4.0.0 | 6.58172E-06 | None | None | None | None | N | None | 2.41499E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0756 | likely_benign | 0.0736 | benign | -1.054 | Destabilizing | 0.134 | N | 0.202 | neutral | N | 0.418165453 | None | None | N |
| P/C | 0.4523 | ambiguous | 0.3895 | ambiguous | -0.756 | Destabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| P/D | 0.356 | ambiguous | 0.343 | ambiguous | -0.937 | Destabilizing | 0.884 | D | 0.449 | neutral | None | None | None | None | N |
| P/E | 0.1823 | likely_benign | 0.1827 | benign | -1.03 | Destabilizing | 0.17 | N | 0.324 | neutral | None | None | None | None | N |
| P/F | 0.324 | likely_benign | 0.2724 | benign | -1.063 | Destabilizing | 0.997 | D | 0.509 | neutral | None | None | None | None | N |
| P/G | 0.3433 | ambiguous | 0.3276 | benign | -1.249 | Destabilizing | 0.939 | D | 0.449 | neutral | None | None | None | None | N |
| P/H | 0.1855 | likely_benign | 0.1727 | benign | -0.737 | Destabilizing | 0.999 | D | 0.499 | neutral | None | None | None | None | N |
| P/I | 0.1729 | likely_benign | 0.162 | benign | -0.666 | Destabilizing | 0.982 | D | 0.528 | neutral | None | None | None | None | N |
| P/K | 0.1866 | likely_benign | 0.1966 | benign | -0.891 | Destabilizing | 0.939 | D | 0.447 | neutral | None | None | None | None | N |
| P/L | 0.0842 | likely_benign | 0.0772 | benign | -0.666 | Destabilizing | 0.985 | D | 0.518 | neutral | N | 0.470557143 | None | None | N |
| P/M | 0.1935 | likely_benign | 0.1871 | benign | -0.484 | Destabilizing | 0.999 | D | 0.5 | neutral | None | None | None | None | N |
| P/N | 0.2889 | likely_benign | 0.2778 | benign | -0.59 | Destabilizing | 0.991 | D | 0.505 | neutral | None | None | None | None | N |
| P/Q | 0.1225 | likely_benign | 0.1243 | benign | -0.889 | Destabilizing | 0.99 | D | 0.539 | neutral | N | 0.447968285 | None | None | N |
| P/R | 0.1635 | likely_benign | 0.1578 | benign | -0.249 | Destabilizing | 0.99 | D | 0.507 | neutral | N | 0.455683691 | None | None | N |
| P/S | 0.1244 | likely_benign | 0.1163 | benign | -0.98 | Destabilizing | 0.704 | D | 0.435 | neutral | N | 0.486737317 | None | None | N |
| P/T | 0.0989 | likely_benign | 0.0953 | benign | -0.98 | Destabilizing | 0.061 | N | 0.169 | neutral | N | 0.456030408 | None | None | N |
| P/V | 0.1333 | likely_benign | 0.1322 | benign | -0.76 | Destabilizing | 0.939 | D | 0.473 | neutral | None | None | None | None | N |
| P/W | 0.5804 | likely_pathogenic | 0.5119 | ambiguous | -1.12 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| P/Y | 0.3443 | ambiguous | 0.3033 | benign | -0.864 | Destabilizing | 0.997 | D | 0.509 | 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.