Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7756 | 23491;23492;23493 | chr2:178720496;178720495;178720494 | chr2:179585223;179585222;179585221 |
| N2AB | 7439 | 22540;22541;22542 | chr2:178720496;178720495;178720494 | chr2:179585223;179585222;179585221 |
| N2A | 6512 | 19759;19760;19761 | chr2:178720496;178720495;178720494 | chr2:179585223;179585222;179585221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 0.001 | N | 0.119 | 0.173 | 0.124217242631 | gnomAD-4.0.0 | 1.59165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85907E-06 | 0 | 0 |
| D/V | None | None | 0.08 | N | 0.421 | 0.342 | 0.313210971179 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| D/Y | rs534249494  |
-0.317 | 0.954 | N | 0.609 | 0.332 | 0.544389754888 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/Y | rs534249494 |
-0.317 | 0.954 | N | 0.609 | 0.332 | 0.544389754888 | gnomAD-4.0.0 | 7.95824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.64802E-05 | 0 | 5.71814E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1295 | likely_benign | 0.135 | benign | -0.315 | Destabilizing | 0.001 | N | 0.263 | neutral | N | 0.483726802 | None | None | N |
| D/C | 0.4883 | ambiguous | 0.5084 | ambiguous | 0.041 | Stabilizing | 0.901 | D | 0.556 | neutral | None | None | None | None | N |
| D/E | 0.1225 | likely_benign | 0.1303 | benign | -0.705 | Destabilizing | 0.285 | N | 0.324 | neutral | N | 0.458983073 | None | None | N |
| D/F | 0.3572 | ambiguous | 0.3701 | ambiguous | -0.553 | Destabilizing | 0.561 | D | 0.621 | neutral | None | None | None | None | N |
| D/G | 0.1692 | likely_benign | 0.1763 | benign | -0.571 | Destabilizing | 0.166 | N | 0.433 | neutral | N | 0.417888599 | None | None | N |
| D/H | 0.1481 | likely_benign | 0.1617 | benign | -0.934 | Destabilizing | 0.873 | D | 0.485 | neutral | N | 0.489268695 | None | None | N |
| D/I | 0.1746 | likely_benign | 0.1841 | benign | 0.326 | Stabilizing | 0.002 | N | 0.363 | neutral | None | None | None | None | N |
| D/K | 0.2574 | likely_benign | 0.2813 | benign | -0.073 | Destabilizing | 0.345 | N | 0.429 | neutral | None | None | None | None | N |
| D/L | 0.2015 | likely_benign | 0.2192 | benign | 0.326 | Stabilizing | 0.002 | N | 0.363 | neutral | None | None | None | None | N |
| D/M | 0.4243 | ambiguous | 0.4492 | ambiguous | 0.747 | Stabilizing | 0.818 | D | 0.571 | neutral | None | None | None | None | N |
| D/N | 0.0793 | likely_benign | 0.0809 | benign | -0.279 | Destabilizing | 0.001 | N | 0.119 | neutral | N | 0.434087415 | None | None | N |
| D/P | 0.7776 | likely_pathogenic | 0.778 | pathogenic | 0.137 | Stabilizing | 0.722 | D | 0.521 | neutral | None | None | None | None | N |
| D/Q | 0.1974 | likely_benign | 0.2201 | benign | -0.237 | Destabilizing | 0.722 | D | 0.407 | neutral | None | None | None | None | N |
| D/R | 0.2591 | likely_benign | 0.2859 | benign | -0.154 | Destabilizing | 0.561 | D | 0.551 | neutral | None | None | None | None | N |
| D/S | 0.0971 | likely_benign | 0.1037 | benign | -0.454 | Destabilizing | 0.103 | N | 0.259 | neutral | None | None | None | None | N |
| D/T | 0.158 | likely_benign | 0.1692 | benign | -0.255 | Destabilizing | 0.002 | N | 0.193 | neutral | None | None | None | None | N |
| D/V | 0.1201 | likely_benign | 0.1234 | benign | 0.137 | Stabilizing | 0.08 | N | 0.421 | neutral | N | 0.438455872 | None | None | N |
| D/W | 0.7768 | likely_pathogenic | 0.7961 | pathogenic | -0.561 | Destabilizing | 0.991 | D | 0.574 | neutral | None | None | None | None | N |
| D/Y | 0.145 | likely_benign | 0.1488 | benign | -0.351 | Destabilizing | 0.954 | D | 0.609 | neutral | N | 0.487191182 | 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.