Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 16036 | 48331;48332;48333 | chr2:178616783;178616782;178616781 | chr2:179481510;179481509;179481508 |
N2AB | 14395 | 43408;43409;43410 | chr2:178616783;178616782;178616781 | chr2:179481510;179481509;179481508 |
N2A | 13468 | 40627;40628;40629 | chr2:178616783;178616782;178616781 | chr2:179481510;179481509;179481508 |
N2B | 6971 | 21136;21137;21138 | chr2:178616783;178616782;178616781 | chr2:179481510;179481509;179481508 |
Novex-1 | 7096 | 21511;21512;21513 | chr2:178616783;178616782;178616781 | chr2:179481510;179481509;179481508 |
Novex-2 | 7163 | 21712;21713;21714 | chr2:178616783;178616782;178616781 | chr2:179481510;179481509;179481508 |
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/Q | rs886055271 | None | None | N | 0.246 | 0.14 | 0.203808441222 | gnomAD-4.0.0 | 4.79216E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5236E-05 | None | 0 | 0 | 8.99865E-07 | 0 | 8.29105E-05 |
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 | 0.3378 | likely_benign | 0.3502 | ambiguous | -0.623 | Destabilizing | 0.007 | N | 0.35 | neutral | None | None | None | None | N |
K/C | 0.5082 | ambiguous | 0.5405 | ambiguous | -0.87 | Destabilizing | 0.676 | D | 0.524 | neutral | None | None | None | None | N |
K/D | 0.6154 | likely_pathogenic | 0.6505 | pathogenic | -0.371 | Destabilizing | 0.016 | N | 0.403 | neutral | None | None | None | None | N |
K/E | 0.1709 | likely_benign | 0.1967 | benign | -0.295 | Destabilizing | None | N | 0.235 | neutral | N | 0.460057057 | None | None | N |
K/F | 0.6291 | likely_pathogenic | 0.6179 | pathogenic | -0.663 | Destabilizing | 0.356 | N | 0.575 | neutral | None | None | None | None | N |
K/G | 0.5671 | likely_pathogenic | 0.5834 | pathogenic | -0.931 | Destabilizing | 0.016 | N | 0.463 | neutral | None | None | None | None | N |
K/H | 0.1774 | likely_benign | 0.1879 | benign | -1.36 | Destabilizing | None | N | 0.342 | neutral | None | None | None | None | N |
K/I | 0.1924 | likely_benign | 0.2065 | benign | 0.153 | Stabilizing | 0.029 | N | 0.585 | neutral | N | 0.482922463 | None | None | N |
K/L | 0.2322 | likely_benign | 0.2326 | benign | 0.153 | Stabilizing | 0.016 | N | 0.462 | neutral | None | None | None | None | N |
K/M | 0.1405 | likely_benign | 0.1559 | benign | 0.161 | Stabilizing | 0.356 | N | 0.512 | neutral | None | None | None | None | N |
K/N | 0.2994 | likely_benign | 0.3274 | benign | -0.449 | Destabilizing | None | N | 0.219 | neutral | N | 0.507088738 | None | None | N |
K/P | 0.9725 | likely_pathogenic | 0.9695 | pathogenic | -0.077 | Destabilizing | 0.136 | N | 0.493 | neutral | None | None | None | None | N |
K/Q | 0.1005 | likely_benign | 0.1132 | benign | -0.688 | Destabilizing | None | N | 0.246 | neutral | N | 0.387216009 | None | None | N |
K/R | 0.0849 | likely_benign | 0.0918 | benign | -0.462 | Destabilizing | 0.012 | N | 0.387 | neutral | N | 0.477458347 | None | None | N |
K/S | 0.2981 | likely_benign | 0.308 | benign | -1.129 | Destabilizing | 0.007 | N | 0.283 | neutral | None | None | None | None | N |
K/T | 0.0757 | likely_benign | 0.0823 | benign | -0.863 | Destabilizing | None | N | 0.295 | neutral | N | 0.385775787 | None | None | N |
K/V | 0.2088 | likely_benign | 0.2318 | benign | -0.077 | Destabilizing | 0.016 | N | 0.459 | neutral | None | None | None | None | N |
K/W | 0.6961 | likely_pathogenic | 0.6827 | pathogenic | -0.509 | Destabilizing | 0.864 | D | 0.536 | neutral | None | None | None | None | N |
K/Y | 0.4726 | ambiguous | 0.4726 | ambiguous | -0.141 | Destabilizing | 0.072 | N | 0.605 | 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.