Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 7396 | 22411;22412;22413 | chr2:178722713;178722712;178722711 | chr2:179587440;179587439;179587438 |
N2AB | 7079 | 21460;21461;21462 | chr2:178722713;178722712;178722711 | chr2:179587440;179587439;179587438 |
N2A | 6152 | 18679;18680;18681 | chr2:178722713;178722712;178722711 | chr2:179587440;179587439;179587438 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/E | None | None | 0.066 | N | 0.49 | 0.105 | 0.0884992946249 | gnomAD-4.0.0 | 3.18563E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86845E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.3231 | likely_benign | 0.4363 | ambiguous | -0.939 | Destabilizing | 0.115 | N | 0.471 | neutral | None | None | None | None | N |
K/C | 0.6306 | likely_pathogenic | 0.7025 | pathogenic | -1.184 | Destabilizing | 0.944 | D | 0.585 | neutral | None | None | None | None | N |
K/D | 0.7184 | likely_pathogenic | 0.8403 | pathogenic | -0.767 | Destabilizing | 0.385 | N | 0.573 | neutral | None | None | None | None | N |
K/E | 0.1665 | likely_benign | 0.2469 | benign | -0.636 | Destabilizing | 0.066 | N | 0.49 | neutral | N | 0.444632483 | None | None | N |
K/F | 0.6001 | likely_pathogenic | 0.7191 | pathogenic | -0.759 | Destabilizing | 0.467 | N | 0.619 | neutral | None | None | None | None | N |
K/G | 0.5994 | likely_pathogenic | 0.7391 | pathogenic | -1.301 | Destabilizing | 0.385 | N | 0.585 | neutral | None | None | None | None | N |
K/H | 0.2818 | likely_benign | 0.3316 | benign | -1.643 | Destabilizing | 0.649 | D | 0.569 | neutral | None | None | None | None | N |
K/I | 0.1317 | likely_benign | 0.1751 | benign | 0.012 | Stabilizing | None | N | 0.565 | neutral | N | 0.488770049 | None | None | N |
K/L | 0.2356 | likely_benign | 0.2984 | benign | 0.012 | Stabilizing | 0.001 | N | 0.553 | neutral | None | None | None | None | N |
K/M | 0.1316 | likely_benign | 0.1595 | benign | -0.039 | Destabilizing | 0.005 | N | 0.457 | neutral | None | None | None | None | N |
K/N | 0.4627 | ambiguous | 0.607 | pathogenic | -0.905 | Destabilizing | 0.321 | N | 0.55 | neutral | N | 0.52172783 | None | None | N |
K/P | 0.97 | likely_pathogenic | 0.9873 | pathogenic | -0.277 | Destabilizing | 0.817 | D | 0.599 | neutral | None | None | None | None | N |
K/Q | 0.1229 | likely_benign | 0.1474 | benign | -1.032 | Destabilizing | 0.002 | N | 0.34 | neutral | N | 0.496829385 | None | None | N |
K/R | 0.0779 | likely_benign | 0.0845 | benign | -0.737 | Destabilizing | 0.042 | N | 0.515 | neutral | N | 0.483150799 | None | None | N |
K/S | 0.4178 | ambiguous | 0.5469 | ambiguous | -1.59 | Destabilizing | 0.024 | N | 0.322 | neutral | None | None | None | None | N |
K/T | 0.1265 | likely_benign | 0.1631 | benign | -1.247 | Destabilizing | None | N | 0.361 | neutral | N | 0.43899459 | None | None | N |
K/V | 0.1264 | likely_benign | 0.1729 | benign | -0.277 | Destabilizing | None | N | 0.531 | neutral | None | None | None | None | N |
K/W | 0.6879 | likely_pathogenic | 0.774 | pathogenic | -0.622 | Destabilizing | 0.987 | D | 0.605 | neutral | None | None | None | None | N |
K/Y | 0.5423 | ambiguous | 0.6324 | pathogenic | -0.265 | Destabilizing | 0.172 | N | 0.612 | 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.