Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18368 | 55327;55328;55329 | chr2:178602300;178602299;178602298 | chr2:179467027;179467026;179467025 |
| N2AB | 16727 | 50404;50405;50406 | chr2:178602300;178602299;178602298 | chr2:179467027;179467026;179467025 |
| N2A | 15800 | 47623;47624;47625 | chr2:178602300;178602299;178602298 | chr2:179467027;179467026;179467025 |
| N2B | 9303 | 28132;28133;28134 | chr2:178602300;178602299;178602298 | chr2:179467027;179467026;179467025 |
| Novex-1 | 9428 | 28507;28508;28509 | chr2:178602300;178602299;178602298 | chr2:179467027;179467026;179467025 |
| Novex-2 | 9495 | 28708;28709;28710 | chr2:178602300;178602299;178602298 | chr2:179467027;179467026;179467025 |
| 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 | rs750193854  |
-0.245 | None | N | 0.43 | 0.157 | 0.462635795511 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs750193854 |
-0.245 | None | N | 0.43 | 0.157 | 0.462635795511 | gnomAD-4.0.0 | 3.18738E-06 | None | None | None | None | N | None | 0 | 4.58022E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1220806171 |
-0.948 | 0.03 | N | 0.553 | 0.211 | 0.17948927462 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 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 | 0.0667 | likely_benign | 0.0619 | benign | -1.237 | Destabilizing | 0.012 | N | 0.485 | neutral | N | 0.461247013 | None | None | N |
| P/C | 0.356 | ambiguous | 0.345 | ambiguous | -0.824 | Destabilizing | 0.869 | D | 0.628 | neutral | None | None | None | None | N |
| P/D | 0.4682 | ambiguous | 0.4638 | ambiguous | -0.918 | Destabilizing | 0.075 | N | 0.53 | neutral | None | None | None | None | N |
| P/E | 0.2566 | likely_benign | 0.247 | benign | -0.94 | Destabilizing | 0.075 | N | 0.538 | neutral | None | None | None | None | N |
| P/F | 0.3031 | likely_benign | 0.2924 | benign | -0.944 | Destabilizing | 0.125 | N | 0.699 | prob.delet. | None | None | None | None | N |
| P/G | 0.3207 | likely_benign | 0.3169 | benign | -1.526 | Destabilizing | 0.075 | N | 0.597 | neutral | None | None | None | None | N |
| P/H | 0.1851 | likely_benign | 0.1767 | benign | -0.992 | Destabilizing | 0.833 | D | 0.579 | neutral | N | 0.462980596 | None | None | N |
| P/I | 0.1497 | likely_benign | 0.1428 | benign | -0.561 | Destabilizing | 0.039 | N | 0.691 | prob.delet. | None | None | None | None | N |
| P/K | 0.2532 | likely_benign | 0.2422 | benign | -1.097 | Destabilizing | 0.039 | N | 0.569 | neutral | None | None | None | None | N |
| P/L | 0.079 | likely_benign | 0.0709 | benign | -0.561 | Destabilizing | None | N | 0.43 | neutral | N | 0.461767088 | None | None | N |
| P/M | 0.1902 | likely_benign | 0.177 | benign | -0.418 | Destabilizing | 0.125 | N | 0.6 | neutral | None | None | None | None | N |
| P/N | 0.337 | likely_benign | 0.3102 | benign | -0.868 | Destabilizing | 0.221 | N | 0.635 | neutral | None | None | None | None | N |
| P/Q | 0.1414 | likely_benign | 0.1332 | benign | -1.043 | Destabilizing | 0.221 | N | 0.52 | neutral | None | None | None | None | N |
| P/R | 0.1683 | likely_benign | 0.1699 | benign | -0.543 | Destabilizing | None | N | 0.414 | neutral | N | 0.425115642 | None | None | N |
| P/S | 0.1323 | likely_benign | 0.1223 | benign | -1.376 | Destabilizing | 0.03 | N | 0.553 | neutral | N | 0.461073655 | None | None | N |
| P/T | 0.0854 | likely_benign | 0.0781 | benign | -1.289 | Destabilizing | None | N | 0.203 | neutral | N | 0.461073655 | None | None | N |
| P/V | 0.1155 | likely_benign | 0.1132 | benign | -0.751 | Destabilizing | 0.039 | N | 0.594 | neutral | None | None | None | None | N |
| P/W | 0.5007 | ambiguous | 0.5042 | ambiguous | -1.106 | Destabilizing | 0.869 | D | 0.676 | prob.neutral | None | None | None | None | N |
| P/Y | 0.3184 | likely_benign | 0.3164 | benign | -0.826 | Destabilizing | 0.366 | N | 0.666 | prob.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.