Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23994 | 72205;72206;72207 | chr2:178574152;178574151;178574150 | chr2:179438879;179438878;179438877 |
| N2AB | 22353 | 67282;67283;67284 | chr2:178574152;178574151;178574150 | chr2:179438879;179438878;179438877 |
| N2A | 21426 | 64501;64502;64503 | chr2:178574152;178574151;178574150 | chr2:179438879;179438878;179438877 |
| N2B | 14929 | 45010;45011;45012 | chr2:178574152;178574151;178574150 | chr2:179438879;179438878;179438877 |
| Novex-1 | 15054 | 45385;45386;45387 | chr2:178574152;178574151;178574150 | chr2:179438879;179438878;179438877 |
| Novex-2 | 15121 | 45586;45587;45588 | chr2:178574152;178574151;178574150 | chr2:179438879;179438878;179438877 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs2154171332  |
None | 0.01 | N | 0.101 | 0.1 | 0.112648838833 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| A/V | rs772886864 |
-0.291 | 0.27 | N | 0.33 | 0.15 | 0.240491677333 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 1.15949E-04 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.65837E-04 |
| A/V | rs772886864 |
-0.291 | 0.27 | N | 0.33 | 0.15 | 0.240491677333 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.61917E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs772886864 |
-0.291 | 0.27 | N | 0.33 | 0.15 | 0.240491677333 | gnomAD-4.0.0 | 1.67338E-05 | None | None | None | None | N | None | 0 | 2.3338E-04 | None | 1.01386E-04 | 0 | None | 0 | 0 | 5.08615E-06 | 0 | 6.40492E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4472 | ambiguous | 0.4026 | ambiguous | -0.757 | Destabilizing | 0.981 | D | 0.454 | neutral | None | None | None | None | N |
| A/D | 0.3068 | likely_benign | 0.3218 | benign | -1.114 | Destabilizing | 0.543 | D | 0.371 | neutral | None | None | None | None | N |
| A/E | 0.2033 | likely_benign | 0.2076 | benign | -1.156 | Destabilizing | 0.006 | N | 0.23 | neutral | N | 0.380161638 | None | None | N |
| A/F | 0.346 | ambiguous | 0.3577 | ambiguous | -1.001 | Destabilizing | 0.893 | D | 0.405 | neutral | None | None | None | None | N |
| A/G | 0.1723 | likely_benign | 0.169 | benign | -1.129 | Destabilizing | 0.425 | N | 0.332 | neutral | N | 0.448216214 | None | None | N |
| A/H | 0.4268 | ambiguous | 0.4041 | ambiguous | -1.296 | Destabilizing | 0.944 | D | 0.425 | neutral | None | None | None | None | N |
| A/I | 0.1836 | likely_benign | 0.1817 | benign | -0.354 | Destabilizing | 0.543 | D | 0.373 | neutral | None | None | None | None | N |
| A/K | 0.31 | likely_benign | 0.278 | benign | -1.158 | Destabilizing | 0.329 | N | 0.369 | neutral | None | None | None | None | N |
| A/L | 0.1653 | likely_benign | 0.1509 | benign | -0.354 | Destabilizing | 0.329 | N | 0.389 | neutral | None | None | None | None | N |
| A/M | 0.2041 | likely_benign | 0.2025 | benign | -0.215 | Destabilizing | 0.176 | N | 0.298 | neutral | None | None | None | None | N |
| A/N | 0.2365 | likely_benign | 0.2254 | benign | -0.826 | Destabilizing | 0.704 | D | 0.381 | neutral | None | None | None | None | N |
| A/P | 0.2249 | likely_benign | 0.2145 | benign | -0.488 | Destabilizing | 0.784 | D | 0.387 | neutral | N | 0.429283736 | None | None | N |
| A/Q | 0.2453 | likely_benign | 0.2269 | benign | -1.002 | Destabilizing | 0.543 | D | 0.4 | neutral | None | None | None | None | N |
| A/R | 0.2943 | likely_benign | 0.2657 | benign | -0.788 | Destabilizing | 0.007 | N | 0.35 | neutral | None | None | None | None | N |
| A/S | 0.0938 | likely_benign | 0.091 | benign | -1.17 | Destabilizing | 0.029 | N | 0.147 | neutral | N | 0.366541767 | None | None | N |
| A/T | 0.0764 | likely_benign | 0.0763 | benign | -1.123 | Destabilizing | 0.01 | N | 0.101 | neutral | N | 0.36161595 | None | None | N |
| A/V | 0.1075 | likely_benign | 0.1055 | benign | -0.488 | Destabilizing | 0.27 | N | 0.33 | neutral | N | 0.388322548 | None | None | N |
| A/W | 0.7334 | likely_pathogenic | 0.7136 | pathogenic | -1.344 | Destabilizing | 0.995 | D | 0.471 | neutral | None | None | None | None | N |
| A/Y | 0.4586 | ambiguous | 0.4407 | ambiguous | -0.948 | Destabilizing | 0.981 | D | 0.406 | 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.