Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14862 | 44809;44810;44811 | chr2:178624696;178624695;178624694 | chr2:179489423;179489422;179489421 |
| N2AB | 13221 | 39886;39887;39888 | chr2:178624696;178624695;178624694 | chr2:179489423;179489422;179489421 |
| N2A | 12294 | 37105;37106;37107 | chr2:178624696;178624695;178624694 | chr2:179489423;179489422;179489421 |
| N2B | 5797 | 17614;17615;17616 | chr2:178624696;178624695;178624694 | chr2:179489423;179489422;179489421 |
| Novex-1 | 5922 | 17989;17990;17991 | chr2:178624696;178624695;178624694 | chr2:179489423;179489422;179489421 |
| Novex-2 | 5989 | 18190;18191;18192 | chr2:178624696;178624695;178624694 | chr2:179489423;179489422;179489421 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.999 | D | 0.66 | 0.364 | 0.451599300725 | gnomAD-4.0.0 | 6.84765E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00027E-07 | 0 | 0 |
| Q/R | None | None | 0.997 | N | 0.461 | 0.454 | 0.338834610459 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.43 | ambiguous | 0.4501 | ambiguous | -0.486 | Destabilizing | 0.997 | D | 0.501 | neutral | None | None | None | None | N |
| Q/C | 0.8126 | likely_pathogenic | 0.8373 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| Q/D | 0.8013 | likely_pathogenic | 0.8234 | pathogenic | -0.577 | Destabilizing | 0.997 | D | 0.459 | neutral | None | None | None | None | N |
| Q/E | 0.1478 | likely_benign | 0.1439 | benign | -0.513 | Destabilizing | 0.992 | D | 0.395 | neutral | D | 0.569819595 | None | None | N |
| Q/F | 0.8718 | likely_pathogenic | 0.8786 | pathogenic | -0.262 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| Q/G | 0.675 | likely_pathogenic | 0.6919 | pathogenic | -0.822 | Destabilizing | 0.997 | D | 0.619 | neutral | None | None | None | None | N |
| Q/H | 0.5977 | likely_pathogenic | 0.606 | pathogenic | -0.85 | Destabilizing | 0.999 | D | 0.66 | neutral | D | 0.537596098 | None | None | N |
| Q/I | 0.3956 | ambiguous | 0.4036 | ambiguous | 0.356 | Stabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| Q/K | 0.1527 | likely_benign | 0.151 | benign | -0.393 | Destabilizing | 0.997 | D | 0.463 | neutral | N | 0.510315903 | None | None | N |
| Q/L | 0.2426 | likely_benign | 0.2645 | benign | 0.356 | Stabilizing | 0.997 | D | 0.619 | neutral | N | 0.477171313 | None | None | N |
| Q/M | 0.4186 | ambiguous | 0.4317 | ambiguous | 0.786 | Stabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| Q/N | 0.6392 | likely_pathogenic | 0.6682 | pathogenic | -0.791 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| Q/P | 0.9313 | likely_pathogenic | 0.9477 | pathogenic | 0.107 | Stabilizing | 0.999 | D | 0.734 | prob.delet. | D | 0.61189786 | None | None | N |
| Q/R | 0.1999 | likely_benign | 0.2012 | benign | -0.362 | Destabilizing | 0.997 | D | 0.461 | neutral | N | 0.510770413 | None | None | N |
| Q/S | 0.5846 | likely_pathogenic | 0.6043 | pathogenic | -0.805 | Destabilizing | 0.997 | D | 0.419 | neutral | None | None | None | None | N |
| Q/T | 0.2991 | likely_benign | 0.3189 | benign | -0.562 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| Q/V | 0.275 | likely_benign | 0.2814 | benign | 0.107 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| Q/W | 0.888 | likely_pathogenic | 0.9004 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| Q/Y | 0.7913 | likely_pathogenic | 0.8116 | pathogenic | 0.015 | Stabilizing | 0.999 | D | 0.742 | deleterious | 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.