Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6320 | 19183;19184;19185 | chr2:178729080;178729079;178729078 | chr2:179593807;179593806;179593805 |
N2AB | 6003 | 18232;18233;18234 | chr2:178729080;178729079;178729078 | chr2:179593807;179593806;179593805 |
N2A | 5076 | 15451;15452;15453 | chr2:178729080;178729079;178729078 | chr2:179593807;179593806;179593805 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/H | rs886246785 | None | 1.0 | D | 0.533 | 0.463 | 0.590966807702 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
P/H | rs886246785 | None | 1.0 | D | 0.533 | 0.463 | 0.590966807702 | gnomAD-4.0.0 | 4.96173E-06 | None | None | None | None | I | None | 1.06855E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
P/L | None | None | 0.961 | N | 0.503 | 0.355 | 0.682110513636 | gnomAD-4.0.0 | 6.84815E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99878E-07 | 0 | 0 |
P/R | None | None | 0.997 | N | 0.531 | 0.451 | 0.535774538982 | gnomAD-4.0.0 | 2.05445E-06 | None | None | None | None | I | None | 0 | 2.24638E-05 | None | 0 | 0 | None | 0 | 0 | 1.79976E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.1719 | likely_benign | 0.1453 | benign | -0.45 | Destabilizing | 0.953 | D | 0.415 | neutral | N | 0.494073347 | None | None | I |
P/C | 0.7382 | likely_pathogenic | 0.7372 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.553 | neutral | None | None | None | None | I |
P/D | 0.5276 | ambiguous | 0.5036 | ambiguous | -0.34 | Destabilizing | 0.998 | D | 0.394 | neutral | None | None | None | None | I |
P/E | 0.3947 | ambiguous | 0.3666 | ambiguous | -0.461 | Destabilizing | 0.993 | D | 0.413 | neutral | None | None | None | None | I |
P/F | 0.7066 | likely_pathogenic | 0.6847 | pathogenic | -0.731 | Destabilizing | 0.998 | D | 0.55 | neutral | None | None | None | None | I |
P/G | 0.4978 | ambiguous | 0.4642 | ambiguous | -0.56 | Destabilizing | 0.993 | D | 0.507 | neutral | None | None | None | None | I |
P/H | 0.3756 | ambiguous | 0.3431 | ambiguous | -0.177 | Destabilizing | 1.0 | D | 0.533 | neutral | D | 0.52234582 | None | None | I |
P/I | 0.513 | ambiguous | 0.4888 | ambiguous | -0.31 | Destabilizing | 0.971 | D | 0.524 | neutral | None | None | None | None | I |
P/K | 0.5063 | ambiguous | 0.4511 | ambiguous | -0.462 | Destabilizing | 0.993 | D | 0.41 | neutral | None | None | None | None | I |
P/L | 0.2778 | likely_benign | 0.2529 | benign | -0.31 | Destabilizing | 0.961 | D | 0.503 | neutral | N | 0.495087306 | None | None | I |
P/M | 0.5254 | ambiguous | 0.5017 | ambiguous | -0.418 | Destabilizing | 0.998 | D | 0.527 | neutral | None | None | None | None | I |
P/N | 0.4561 | ambiguous | 0.4375 | ambiguous | -0.191 | Destabilizing | 0.998 | D | 0.511 | neutral | None | None | None | None | I |
P/Q | 0.3056 | likely_benign | 0.2692 | benign | -0.436 | Destabilizing | 0.999 | D | 0.413 | neutral | None | None | None | None | I |
P/R | 0.358 | ambiguous | 0.3053 | benign | 0.042 | Stabilizing | 0.997 | D | 0.531 | neutral | N | 0.492124791 | None | None | I |
P/S | 0.2329 | likely_benign | 0.2182 | benign | -0.517 | Destabilizing | 0.961 | D | 0.419 | neutral | N | 0.504366469 | None | None | I |
P/T | 0.1954 | likely_benign | 0.1909 | benign | -0.54 | Destabilizing | 0.219 | N | 0.201 | neutral | D | 0.52766958 | None | None | I |
P/V | 0.3528 | ambiguous | 0.3306 | benign | -0.323 | Destabilizing | 0.469 | N | 0.357 | neutral | None | None | None | None | I |
P/W | 0.8617 | likely_pathogenic | 0.8561 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
P/Y | 0.6591 | likely_pathogenic | 0.6312 | pathogenic | -0.513 | Destabilizing | 0.999 | D | 0.55 | 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.