Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6817 | 20674;20675;20676 | chr2:178725873;178725872;178725871 | chr2:179590600;179590599;179590598 |
| N2AB | 6500 | 19723;19724;19725 | chr2:178725873;178725872;178725871 | chr2:179590600;179590599;179590598 |
| N2A | 5573 | 16942;16943;16944 | chr2:178725873;178725872;178725871 | chr2:179590600;179590599;179590598 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.913 | N | 0.551 | 0.334 | 0.468504517574 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/I | rs757470877  |
0.367 | 0.999 | D | 0.634 | 0.39 | 0.682950235808 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/I | rs757470877 |
0.367 | 0.999 | D | 0.634 | 0.39 | 0.682950235808 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 8.65052E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | rs757470877 |
0.367 | 0.999 | D | 0.634 | 0.39 | 0.682950235808 | gnomAD-4.0.0 | 8.97424E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.86509E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1002 | likely_benign | 0.0953 | benign | -0.571 | Destabilizing | 0.417 | N | 0.435 | neutral | None | None | None | None | N |
| S/C | 0.1539 | likely_benign | 0.1252 | benign | -0.531 | Destabilizing | 0.52 | D | 0.455 | neutral | N | 0.492724357 | None | None | N |
| S/D | 0.608 | likely_pathogenic | 0.5298 | ambiguous | -1.754 | Destabilizing | 0.901 | D | 0.583 | neutral | None | None | None | None | N |
| S/E | 0.7137 | likely_pathogenic | 0.6601 | pathogenic | -1.568 | Destabilizing | 0.962 | D | 0.577 | neutral | None | None | None | None | N |
| S/F | 0.3248 | likely_benign | 0.2626 | benign | -0.431 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| S/G | 0.1401 | likely_benign | 0.1199 | benign | -0.957 | Destabilizing | 0.913 | D | 0.551 | neutral | N | 0.489988878 | None | None | N |
| S/H | 0.4169 | ambiguous | 0.3558 | ambiguous | -1.469 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| S/I | 0.2514 | likely_benign | 0.2209 | benign | 0.402 | Stabilizing | 0.999 | D | 0.634 | neutral | D | 0.538313435 | None | None | N |
| S/K | 0.7776 | likely_pathogenic | 0.7177 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| S/L | 0.1786 | likely_benign | 0.1612 | benign | 0.402 | Stabilizing | 0.997 | D | 0.625 | neutral | None | None | None | None | N |
| S/M | 0.2803 | likely_benign | 0.2411 | benign | 0.365 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| S/N | 0.2025 | likely_benign | 0.1637 | benign | -1.114 | Destabilizing | 0.021 | N | 0.339 | neutral | D | 0.5237867 | None | None | N |
| S/P | 0.9726 | likely_pathogenic | 0.9652 | pathogenic | 0.113 | Stabilizing | 0.997 | D | 0.633 | neutral | None | None | None | None | N |
| S/Q | 0.6022 | likely_pathogenic | 0.553 | ambiguous | -0.837 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | N |
| S/R | 0.6623 | likely_pathogenic | 0.6123 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.494906588 | None | None | N |
| S/T | 0.0968 | likely_benign | 0.091 | benign | -0.674 | Destabilizing | 0.001 | N | 0.289 | neutral | N | 0.45678813 | None | None | N |
| S/V | 0.2295 | likely_benign | 0.2072 | benign | 0.113 | Stabilizing | 0.996 | D | 0.62 | neutral | None | None | None | None | N |
| S/W | 0.5267 | ambiguous | 0.4623 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2929 | likely_benign | 0.2512 | benign | -0.346 | Destabilizing | 1.0 | D | 0.664 | 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.