Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6584 | 19975;19976;19977 | chr2:178727828;178727827;178727826 | chr2:179592555;179592554;179592553 |
N2AB | 6267 | 19024;19025;19026 | chr2:178727828;178727827;178727826 | chr2:179592555;179592554;179592553 |
N2A | 5340 | 16243;16244;16245 | chr2:178727828;178727827;178727826 | chr2:179592555;179592554;179592553 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q/K | rs908969278 | None | 0.002 | N | 0.151 | 0.106 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Q/A | 0.2251 | likely_benign | 0.2199 | benign | -0.201 | Destabilizing | 0.013 | N | 0.149 | neutral | None | None | None | None | N |
Q/C | 0.7644 | likely_pathogenic | 0.7801 | pathogenic | 0.129 | Stabilizing | 0.995 | D | 0.256 | neutral | None | None | None | None | N |
Q/D | 0.3057 | likely_benign | 0.2788 | benign | 0.083 | Stabilizing | 0.003 | N | 0.143 | neutral | None | None | None | None | N |
Q/E | 0.0678 | likely_benign | 0.0657 | benign | 0.085 | Stabilizing | 0.139 | N | 0.177 | neutral | N | 0.361800456 | None | None | N |
Q/F | 0.6749 | likely_pathogenic | 0.6875 | pathogenic | -0.232 | Destabilizing | 0.944 | D | 0.302 | neutral | None | None | None | None | N |
Q/G | 0.3282 | likely_benign | 0.319 | benign | -0.434 | Destabilizing | 0.329 | N | 0.237 | neutral | None | None | None | None | N |
Q/H | 0.2446 | likely_benign | 0.2392 | benign | -0.259 | Destabilizing | 0.975 | D | 0.301 | neutral | N | 0.493309077 | None | None | N |
Q/I | 0.3366 | likely_benign | 0.3447 | ambiguous | 0.337 | Stabilizing | 0.543 | D | 0.378 | neutral | None | None | None | None | N |
Q/K | 0.102 | likely_benign | 0.0975 | benign | 0.01 | Stabilizing | 0.002 | N | 0.151 | neutral | N | 0.429276242 | None | None | N |
Q/L | 0.137 | likely_benign | 0.1368 | benign | 0.337 | Stabilizing | 0.27 | N | 0.25 | neutral | N | 0.468450705 | None | None | N |
Q/M | 0.3477 | ambiguous | 0.3547 | ambiguous | 0.466 | Stabilizing | 0.944 | D | 0.283 | neutral | None | None | None | None | N |
Q/N | 0.2797 | likely_benign | 0.2668 | benign | -0.35 | Destabilizing | 0.704 | D | 0.196 | neutral | None | None | None | None | N |
Q/P | 0.181 | likely_benign | 0.1747 | benign | 0.188 | Stabilizing | 0.784 | D | 0.311 | neutral | N | 0.512337555 | None | None | N |
Q/R | 0.126 | likely_benign | 0.127 | benign | 0.148 | Stabilizing | 0.473 | N | 0.211 | neutral | N | 0.452211816 | None | None | N |
Q/S | 0.2656 | likely_benign | 0.2596 | benign | -0.368 | Destabilizing | 0.037 | N | 0.143 | neutral | None | None | None | None | N |
Q/T | 0.1866 | likely_benign | 0.1891 | benign | -0.201 | Destabilizing | 0.329 | N | 0.291 | neutral | None | None | None | None | N |
Q/V | 0.2155 | likely_benign | 0.2194 | benign | 0.188 | Stabilizing | 0.031 | N | 0.179 | neutral | None | None | None | None | N |
Q/W | 0.5651 | likely_pathogenic | 0.5664 | pathogenic | -0.192 | Destabilizing | 0.995 | D | 0.271 | neutral | None | None | None | None | N |
Q/Y | 0.4771 | ambiguous | 0.4894 | ambiguous | 0.051 | Stabilizing | 0.981 | D | 0.326 | 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.