Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29378 | 88357;88358;88359 | chr2:178557022;178557021;178557020 | chr2:179421749;179421748;179421747 |
| N2AB | 27737 | 83434;83435;83436 | chr2:178557022;178557021;178557020 | chr2:179421749;179421748;179421747 |
| N2A | 26810 | 80653;80654;80655 | chr2:178557022;178557021;178557020 | chr2:179421749;179421748;179421747 |
| N2B | 20313 | 61162;61163;61164 | chr2:178557022;178557021;178557020 | chr2:179421749;179421748;179421747 |
| Novex-1 | 20438 | 61537;61538;61539 | chr2:178557022;178557021;178557020 | chr2:179421749;179421748;179421747 |
| Novex-2 | 20505 | 61738;61739;61740 | chr2:178557022;178557021;178557020 | chr2:179421749;179421748;179421747 |
| 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 | rs776560772  |
-0.118 | 0.4 | N | 0.281 | 0.165 | 0.165133752707 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | None | None | 0.659 | N | 0.269 | 0.153 | 0.165133752707 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 | 0.1787 | likely_benign | 0.145 | benign | -0.4 | Destabilizing | 0.4 | N | 0.281 | neutral | N | 0.478005111 | None | None | N |
| P/C | 0.722 | likely_pathogenic | 0.6582 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| P/D | 0.6523 | likely_pathogenic | 0.5888 | pathogenic | -0.425 | Destabilizing | 0.996 | D | 0.345 | neutral | None | None | None | None | N |
| P/E | 0.4627 | ambiguous | 0.4072 | ambiguous | -0.545 | Destabilizing | 0.985 | D | 0.363 | neutral | None | None | None | None | N |
| P/F | 0.7934 | likely_pathogenic | 0.7061 | pathogenic | -0.726 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| P/G | 0.4423 | ambiguous | 0.3565 | ambiguous | -0.474 | Destabilizing | 0.171 | N | 0.315 | neutral | None | None | None | None | N |
| P/H | 0.3998 | ambiguous | 0.3366 | benign | -0.009 | Destabilizing | 1.0 | D | 0.526 | neutral | None | None | None | None | N |
| P/I | 0.5694 | likely_pathogenic | 0.4905 | ambiguous | -0.351 | Destabilizing | 0.998 | D | 0.545 | neutral | None | None | None | None | N |
| P/K | 0.4516 | ambiguous | 0.3925 | ambiguous | -0.455 | Destabilizing | 0.996 | D | 0.356 | neutral | None | None | None | None | N |
| P/L | 0.2678 | likely_benign | 0.2074 | benign | -0.351 | Destabilizing | 0.994 | D | 0.464 | neutral | N | 0.466412855 | None | None | N |
| P/M | 0.5353 | ambiguous | 0.4587 | ambiguous | -0.569 | Destabilizing | 1.0 | D | 0.527 | neutral | None | None | None | None | N |
| P/N | 0.5568 | ambiguous | 0.4767 | ambiguous | -0.266 | Destabilizing | 0.996 | D | 0.485 | neutral | None | None | None | None | N |
| P/Q | 0.3416 | ambiguous | 0.2821 | benign | -0.502 | Destabilizing | 0.997 | D | 0.384 | neutral | N | 0.507981302 | None | None | N |
| P/R | 0.341 | ambiguous | 0.2849 | benign | 0.054 | Stabilizing | 0.997 | D | 0.488 | neutral | N | 0.449927988 | None | None | N |
| P/S | 0.2959 | likely_benign | 0.2308 | benign | -0.573 | Destabilizing | 0.659 | D | 0.269 | neutral | N | 0.470345633 | None | None | N |
| P/T | 0.2049 | likely_benign | 0.1725 | benign | -0.6 | Destabilizing | 0.961 | D | 0.375 | neutral | N | 0.504402279 | None | None | N |
| P/V | 0.4254 | ambiguous | 0.3596 | ambiguous | -0.338 | Destabilizing | 0.996 | D | 0.401 | neutral | None | None | None | None | N |
| P/W | 0.8761 | likely_pathogenic | 0.8112 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| P/Y | 0.7238 | likely_pathogenic | 0.6444 | pathogenic | -0.502 | Destabilizing | 0.999 | D | 0.548 | 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.