Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23361 | 70306;70307;70308 | chr2:178576051;178576050;178576049 | chr2:179440778;179440777;179440776 |
| N2AB | 21720 | 65383;65384;65385 | chr2:178576051;178576050;178576049 | chr2:179440778;179440777;179440776 |
| N2A | 20793 | 62602;62603;62604 | chr2:178576051;178576050;178576049 | chr2:179440778;179440777;179440776 |
| N2B | 14296 | 43111;43112;43113 | chr2:178576051;178576050;178576049 | chr2:179440778;179440777;179440776 |
| Novex-1 | 14421 | 43486;43487;43488 | chr2:178576051;178576050;178576049 | chr2:179440778;179440777;179440776 |
| Novex-2 | 14488 | 43687;43688;43689 | chr2:178576051;178576050;178576049 | chr2:179440778;179440777;179440776 |
| 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 | rs751707858  |
-0.781 | 0.822 | N | 0.465 | 0.216 | 0.199424873507 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/G | rs751707858 |
-0.781 | 0.822 | N | 0.465 | 0.216 | 0.199424873507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs751707858 |
-0.781 | 0.822 | N | 0.465 | 0.216 | 0.199424873507 | gnomAD-4.0.0 | 3.09898E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23862E-06 | 0 | 0 |
| S/N | rs1433418101 |
None | 0.822 | N | 0.448 | 0.173 | 0.141422826196 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-06 | 0 | 0 |
| S/R | None | None | 0.942 | N | 0.477 | 0.385 | 0.289474373501 | gnomAD-4.0.0 | 6.84312E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99582E-07 | 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 | 0.1479 | likely_benign | 0.1559 | benign | -0.581 | Destabilizing | 0.559 | D | 0.467 | neutral | None | None | None | None | I |
| S/C | 0.2311 | likely_benign | 0.2464 | benign | -0.446 | Destabilizing | 0.997 | D | 0.527 | neutral | N | 0.473888956 | None | None | I |
| S/D | 0.8132 | likely_pathogenic | 0.8501 | pathogenic | 0.001 | Stabilizing | 0.86 | D | 0.416 | neutral | None | None | None | None | I |
| S/E | 0.8996 | likely_pathogenic | 0.9209 | pathogenic | 0.014 | Stabilizing | 0.86 | D | 0.406 | neutral | None | None | None | None | I |
| S/F | 0.7026 | likely_pathogenic | 0.7642 | pathogenic | -0.66 | Destabilizing | 0.978 | D | 0.611 | neutral | None | None | None | None | I |
| S/G | 0.2215 | likely_benign | 0.2487 | benign | -0.851 | Destabilizing | 0.822 | D | 0.465 | neutral | N | 0.454770743 | None | None | I |
| S/H | 0.772 | likely_pathogenic | 0.8156 | pathogenic | -1.27 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | I |
| S/I | 0.6222 | likely_pathogenic | 0.6751 | pathogenic | 0.027 | Stabilizing | 0.942 | D | 0.553 | neutral | N | 0.455277722 | None | None | I |
| S/K | 0.9719 | likely_pathogenic | 0.9816 | pathogenic | -0.64 | Destabilizing | 0.86 | D | 0.405 | neutral | None | None | None | None | I |
| S/L | 0.3283 | likely_benign | 0.3932 | ambiguous | 0.027 | Stabilizing | 0.754 | D | 0.5 | neutral | None | None | None | None | I |
| S/M | 0.4302 | ambiguous | 0.5061 | ambiguous | 0.13 | Stabilizing | 0.998 | D | 0.522 | neutral | None | None | None | None | I |
| S/N | 0.392 | ambiguous | 0.447 | ambiguous | -0.613 | Destabilizing | 0.822 | D | 0.448 | neutral | N | 0.475122309 | None | None | I |
| S/P | 0.2364 | likely_benign | 0.2786 | benign | -0.14 | Destabilizing | 0.978 | D | 0.46 | neutral | None | None | None | None | I |
| S/Q | 0.8442 | likely_pathogenic | 0.8718 | pathogenic | -0.682 | Destabilizing | 0.978 | D | 0.452 | neutral | None | None | None | None | I |
| S/R | 0.9636 | likely_pathogenic | 0.9736 | pathogenic | -0.602 | Destabilizing | 0.942 | D | 0.477 | neutral | N | 0.48784089 | None | None | I |
| S/T | 0.1096 | likely_benign | 0.1455 | benign | -0.62 | Destabilizing | 0.006 | N | 0.225 | neutral | N | 0.398584322 | None | None | I |
| S/V | 0.4901 | ambiguous | 0.556 | ambiguous | -0.14 | Destabilizing | 0.754 | D | 0.506 | neutral | None | None | None | None | I |
| S/W | 0.7827 | likely_pathogenic | 0.8187 | pathogenic | -0.675 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | None | I |
| S/Y | 0.6421 | likely_pathogenic | 0.7007 | pathogenic | -0.395 | Destabilizing | 0.993 | D | 0.623 | neutral | None | None | None | None | I |
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.