Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 18238 | 54937;54938;54939 | chr2:178603975;178603974;178603973 | chr2:179468702;179468701;179468700 |
N2AB | 16597 | 50014;50015;50016 | chr2:178603975;178603974;178603973 | chr2:179468702;179468701;179468700 |
N2A | 15670 | 47233;47234;47235 | chr2:178603975;178603974;178603973 | chr2:179468702;179468701;179468700 |
N2B | 9173 | 27742;27743;27744 | chr2:178603975;178603974;178603973 | chr2:179468702;179468701;179468700 |
Novex-1 | 9298 | 28117;28118;28119 | chr2:178603975;178603974;178603973 | chr2:179468702;179468701;179468700 |
Novex-2 | 9365 | 28318;28319;28320 | chr2:178603975;178603974;178603973 | chr2:179468702;179468701;179468700 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/Q | None | None | 0.999 | N | 0.676 | 0.416 | 0.411133732114 | gnomAD-4.0.0 | 1.59345E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43402E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.2835 | likely_benign | 0.247 | benign | -0.409 | Destabilizing | 0.989 | D | 0.483 | neutral | N | 0.465808923 | None | None | N |
E/C | 0.9268 | likely_pathogenic | 0.9153 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
E/D | 0.2893 | likely_benign | 0.2536 | benign | -0.377 | Destabilizing | 0.998 | D | 0.543 | neutral | N | 0.479561993 | None | None | N |
E/F | 0.9583 | likely_pathogenic | 0.9419 | pathogenic | -0.323 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
E/G | 0.452 | ambiguous | 0.382 | ambiguous | -0.597 | Destabilizing | 0.999 | D | 0.55 | neutral | N | 0.496767648 | None | None | N |
E/H | 0.748 | likely_pathogenic | 0.6998 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
E/I | 0.7345 | likely_pathogenic | 0.6843 | pathogenic | 0.049 | Stabilizing | 0.995 | D | 0.595 | neutral | None | None | None | None | N |
E/K | 0.4093 | ambiguous | 0.376 | ambiguous | 0.384 | Stabilizing | 0.998 | D | 0.611 | neutral | N | 0.475256352 | None | None | N |
E/L | 0.7862 | likely_pathogenic | 0.7345 | pathogenic | 0.049 | Stabilizing | 0.983 | D | 0.589 | neutral | None | None | None | None | N |
E/M | 0.8248 | likely_pathogenic | 0.7829 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
E/N | 0.5731 | likely_pathogenic | 0.5145 | ambiguous | 0.043 | Stabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
E/P | 0.4534 | ambiguous | 0.4251 | ambiguous | -0.084 | Destabilizing | 1.0 | D | 0.565 | neutral | None | None | None | None | N |
E/Q | 0.2619 | likely_benign | 0.2314 | benign | 0.069 | Stabilizing | 0.999 | D | 0.676 | prob.neutral | N | 0.466786882 | None | None | N |
E/R | 0.5168 | ambiguous | 0.4895 | ambiguous | 0.548 | Stabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
E/S | 0.4104 | ambiguous | 0.354 | ambiguous | -0.098 | Destabilizing | 0.996 | D | 0.59 | neutral | None | None | None | None | N |
E/T | 0.492 | ambiguous | 0.4347 | ambiguous | 0.058 | Stabilizing | 0.998 | D | 0.54 | neutral | None | None | None | None | N |
E/V | 0.4944 | ambiguous | 0.4547 | ambiguous | -0.084 | Destabilizing | 0.733 | D | 0.319 | neutral | N | 0.485157853 | None | None | N |
E/W | 0.9793 | likely_pathogenic | 0.9712 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
E/Y | 0.9003 | likely_pathogenic | 0.8711 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.621 | 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.