Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 28450 | 85573;85574;85575 | chr2:178560784;178560783;178560782 | chr2:179425511;179425510;179425509 |
N2AB | 26809 | 80650;80651;80652 | chr2:178560784;178560783;178560782 | chr2:179425511;179425510;179425509 |
N2A | 25882 | 77869;77870;77871 | chr2:178560784;178560783;178560782 | chr2:179425511;179425510;179425509 |
N2B | 19385 | 58378;58379;58380 | chr2:178560784;178560783;178560782 | chr2:179425511;179425510;179425509 |
Novex-1 | 19510 | 58753;58754;58755 | chr2:178560784;178560783;178560782 | chr2:179425511;179425510;179425509 |
Novex-2 | 19577 | 58954;58955;58956 | chr2:178560784;178560783;178560782 | chr2:179425511;179425510;179425509 |
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/N | rs373453778 | -0.068 | 0.058 | N | 0.319 | 0.151 | 0.107399877778 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
K/N | rs373453778 | -0.068 | 0.058 | N | 0.319 | 0.151 | 0.107399877778 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
K/N | rs373453778 | -0.068 | 0.058 | N | 0.319 | 0.151 | 0.107399877778 | gnomAD-4.0.0 | 3.42125E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4973E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.5099 | ambiguous | 0.4868 | ambiguous | -0.177 | Destabilizing | 0.016 | N | 0.476 | neutral | None | None | None | None | I |
K/C | 0.6038 | likely_pathogenic | 0.5696 | pathogenic | -0.309 | Destabilizing | 0.869 | D | 0.408 | neutral | None | None | None | None | I |
K/D | 0.8925 | likely_pathogenic | 0.8951 | pathogenic | 0.216 | Stabilizing | 0.075 | N | 0.571 | neutral | None | None | None | None | I |
K/E | 0.3693 | ambiguous | 0.3796 | ambiguous | 0.242 | Stabilizing | 0.012 | N | 0.447 | neutral | N | 0.474810327 | None | None | I |
K/F | 0.8341 | likely_pathogenic | 0.8256 | pathogenic | -0.258 | Destabilizing | 0.221 | N | 0.533 | neutral | None | None | None | None | I |
K/G | 0.7068 | likely_pathogenic | 0.6643 | pathogenic | -0.424 | Destabilizing | 0.075 | N | 0.502 | neutral | None | None | None | None | I |
K/H | 0.4277 | ambiguous | 0.4107 | ambiguous | -0.72 | Destabilizing | 0.366 | N | 0.446 | neutral | None | None | None | None | I |
K/I | 0.2843 | likely_benign | 0.278 | benign | 0.403 | Stabilizing | 0.039 | N | 0.492 | neutral | None | None | None | None | I |
K/L | 0.4578 | ambiguous | 0.4318 | ambiguous | 0.403 | Stabilizing | 0.016 | N | 0.46 | neutral | None | None | None | None | I |
K/M | 0.2878 | likely_benign | 0.2794 | benign | 0.298 | Stabilizing | 0.303 | N | 0.45 | neutral | N | 0.486673612 | None | None | I |
K/N | 0.6852 | likely_pathogenic | 0.6908 | pathogenic | 0.146 | Stabilizing | 0.058 | N | 0.319 | neutral | N | 0.486673612 | None | None | I |
K/P | 0.7999 | likely_pathogenic | 0.7976 | pathogenic | 0.239 | Stabilizing | 0.366 | N | 0.528 | neutral | None | None | None | None | I |
K/Q | 0.193 | likely_benign | 0.1807 | benign | -0.069 | Destabilizing | 0.058 | N | 0.372 | neutral | N | 0.486673612 | None | None | I |
K/R | 0.0718 | likely_benign | 0.0655 | benign | -0.095 | Destabilizing | None | N | 0.095 | neutral | N | 0.397853604 | None | None | I |
K/S | 0.613 | likely_pathogenic | 0.5895 | pathogenic | -0.477 | Destabilizing | 0.075 | N | 0.37 | neutral | None | None | None | None | I |
K/T | 0.2198 | likely_benign | 0.2236 | benign | -0.284 | Destabilizing | 0.058 | N | 0.539 | neutral | N | 0.477277179 | None | None | I |
K/V | 0.2724 | likely_benign | 0.2724 | benign | 0.239 | Stabilizing | None | N | 0.271 | neutral | None | None | None | None | I |
K/W | 0.8467 | likely_pathogenic | 0.8231 | pathogenic | -0.165 | Destabilizing | 0.869 | D | 0.513 | neutral | None | None | None | None | I |
K/Y | 0.7114 | likely_pathogenic | 0.7023 | pathogenic | 0.165 | Stabilizing | 0.366 | N | 0.533 | 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.