Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28485 | 85678;85679;85680 | chr2:178560679;178560678;178560677 | chr2:179425406;179425405;179425404 |
| N2AB | 26844 | 80755;80756;80757 | chr2:178560679;178560678;178560677 | chr2:179425406;179425405;179425404 |
| N2A | 25917 | 77974;77975;77976 | chr2:178560679;178560678;178560677 | chr2:179425406;179425405;179425404 |
| N2B | 19420 | 58483;58484;58485 | chr2:178560679;178560678;178560677 | chr2:179425406;179425405;179425404 |
| Novex-1 | 19545 | 58858;58859;58860 | chr2:178560679;178560678;178560677 | chr2:179425406;179425405;179425404 |
| Novex-2 | 19612 | 59059;59060;59061 | chr2:178560679;178560678;178560677 | chr2:179425406;179425405;179425404 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs746763202  |
-0.621 | 0.99 | N | 0.565 | 0.457 | 0.618957995044 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11919E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs746763202 |
-0.621 | 0.99 | N | 0.565 | 0.457 | 0.618957995044 | gnomAD-4.0.0 | 7.95821E-06 | None | None | None | None | N | None | 5.65611E-05 | 0 | None | 0 | 1.11123E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4008 | ambiguous | 0.3837 | ambiguous | -2.431 | Highly Destabilizing | 0.617 | D | 0.519 | neutral | None | None | None | None | N |
| Y/C | 0.1029 | likely_benign | 0.1011 | benign | -0.955 | Destabilizing | 0.99 | D | 0.565 | neutral | N | 0.507552519 | None | None | N |
| Y/D | 0.3274 | likely_benign | 0.3197 | benign | -1.16 | Destabilizing | 0.379 | N | 0.575 | neutral | N | 0.482000714 | None | None | N |
| Y/E | 0.6874 | likely_pathogenic | 0.6817 | pathogenic | -1.062 | Destabilizing | 0.617 | D | 0.546 | neutral | None | None | None | None | N |
| Y/F | 0.1172 | likely_benign | 0.1117 | benign | -0.952 | Destabilizing | 0.712 | D | 0.479 | neutral | N | 0.466177771 | None | None | N |
| Y/G | 0.2398 | likely_benign | 0.2335 | benign | -2.761 | Highly Destabilizing | 0.447 | N | 0.546 | neutral | None | None | None | None | N |
| Y/H | 0.088 | likely_benign | 0.0919 | benign | -1.084 | Destabilizing | 0.002 | N | 0.127 | neutral | N | 0.372102302 | None | None | N |
| Y/I | 0.6479 | likely_pathogenic | 0.6254 | pathogenic | -1.415 | Destabilizing | 0.92 | D | 0.605 | neutral | None | None | None | None | N |
| Y/K | 0.4721 | ambiguous | 0.4794 | ambiguous | -1.202 | Destabilizing | 0.617 | D | 0.576 | neutral | None | None | None | None | N |
| Y/L | 0.5801 | likely_pathogenic | 0.5621 | ambiguous | -1.415 | Destabilizing | 0.617 | D | 0.495 | neutral | None | None | None | None | N |
| Y/M | 0.7126 | likely_pathogenic | 0.6956 | pathogenic | -1.029 | Destabilizing | 0.992 | D | 0.55 | neutral | None | None | None | None | N |
| Y/N | 0.13 | likely_benign | 0.1329 | benign | -1.519 | Destabilizing | 0.004 | N | 0.345 | neutral | N | 0.39457373 | None | None | N |
| Y/P | 0.9683 | likely_pathogenic | 0.9632 | pathogenic | -1.751 | Destabilizing | 0.972 | D | 0.591 | neutral | None | None | None | None | N |
| Y/Q | 0.439 | ambiguous | 0.4518 | ambiguous | -1.467 | Destabilizing | 0.85 | D | 0.602 | neutral | None | None | None | None | N |
| Y/R | 0.262 | likely_benign | 0.2729 | benign | -0.722 | Destabilizing | 0.617 | D | 0.595 | neutral | None | None | None | None | N |
| Y/S | 0.1351 | likely_benign | 0.1267 | benign | -2.063 | Highly Destabilizing | 0.379 | N | 0.549 | neutral | N | 0.404115933 | None | None | N |
| Y/T | 0.3489 | ambiguous | 0.3489 | ambiguous | -1.872 | Destabilizing | 0.617 | D | 0.578 | neutral | None | None | None | None | N |
| Y/V | 0.5115 | ambiguous | 0.4968 | ambiguous | -1.751 | Destabilizing | 0.766 | D | 0.547 | neutral | None | None | None | None | N |
| Y/W | 0.4455 | ambiguous | 0.4294 | ambiguous | -0.459 | Destabilizing | 0.992 | D | 0.515 | 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.