Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 27853 | 83782;83783;83784 | chr2:178562575;178562574;178562573 | chr2:179427302;179427301;179427300 |
N2AB | 26212 | 78859;78860;78861 | chr2:178562575;178562574;178562573 | chr2:179427302;179427301;179427300 |
N2A | 25285 | 76078;76079;76080 | chr2:178562575;178562574;178562573 | chr2:179427302;179427301;179427300 |
N2B | 18788 | 56587;56588;56589 | chr2:178562575;178562574;178562573 | chr2:179427302;179427301;179427300 |
Novex-1 | 18913 | 56962;56963;56964 | chr2:178562575;178562574;178562573 | chr2:179427302;179427301;179427300 |
Novex-2 | 18980 | 57163;57164;57165 | chr2:178562575;178562574;178562573 | chr2:179427302;179427301;179427300 |
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/K | None | None | 0.123 | N | 0.455 | 0.252 | 0.270001397563 | gnomAD-4.0.0 | 1.59873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86699E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.2307 | likely_benign | 0.1803 | benign | -0.754 | Destabilizing | 0.03 | N | 0.474 | neutral | N | 0.47266855 | None | None | N |
E/C | 0.8787 | likely_pathogenic | 0.8436 | pathogenic | -0.445 | Destabilizing | 0.942 | D | 0.679 | prob.neutral | None | None | None | None | N |
E/D | 0.2496 | likely_benign | 0.2172 | benign | -1.027 | Destabilizing | None | N | 0.243 | neutral | N | 0.47094703 | None | None | N |
E/F | 0.8208 | likely_pathogenic | 0.7707 | pathogenic | 0.018 | Stabilizing | 0.889 | D | 0.662 | prob.neutral | None | None | None | None | N |
E/G | 0.3647 | ambiguous | 0.2959 | benign | -1.138 | Destabilizing | 0.201 | N | 0.586 | neutral | N | 0.502764675 | None | None | N |
E/H | 0.6669 | likely_pathogenic | 0.6013 | pathogenic | -0.153 | Destabilizing | 0.653 | D | 0.479 | neutral | None | None | None | None | N |
E/I | 0.4539 | ambiguous | 0.3709 | ambiguous | 0.299 | Stabilizing | 0.552 | D | 0.661 | prob.neutral | None | None | None | None | N |
E/K | 0.3189 | likely_benign | 0.2568 | benign | -0.511 | Destabilizing | 0.123 | N | 0.455 | neutral | N | 0.490394411 | None | None | N |
E/L | 0.5322 | ambiguous | 0.453 | ambiguous | 0.299 | Stabilizing | 0.148 | N | 0.653 | prob.neutral | None | None | None | None | N |
E/M | 0.5171 | ambiguous | 0.4411 | ambiguous | 0.648 | Stabilizing | 0.454 | N | 0.625 | neutral | None | None | None | None | N |
E/N | 0.4581 | ambiguous | 0.379 | ambiguous | -1.103 | Destabilizing | 0.074 | N | 0.411 | neutral | None | None | None | None | N |
E/P | 0.8657 | likely_pathogenic | 0.7895 | pathogenic | -0.031 | Destabilizing | 0.155 | N | 0.543 | neutral | None | None | None | None | N |
E/Q | 0.2058 | likely_benign | 0.1839 | benign | -0.938 | Destabilizing | 0.003 | N | 0.487 | neutral | N | 0.48135551 | None | None | N |
E/R | 0.5089 | ambiguous | 0.4353 | ambiguous | -0.145 | Destabilizing | 0.156 | N | 0.457 | neutral | None | None | None | None | N |
E/S | 0.3071 | likely_benign | 0.241 | benign | -1.402 | Destabilizing | 0.003 | N | 0.317 | neutral | None | None | None | None | N |
E/T | 0.3067 | likely_benign | 0.2338 | benign | -1.077 | Destabilizing | 0.121 | N | 0.469 | neutral | None | None | None | None | N |
E/V | 0.2687 | likely_benign | 0.2215 | benign | -0.031 | Destabilizing | 0.246 | N | 0.601 | neutral | N | 0.479545085 | None | None | N |
E/W | 0.9609 | likely_pathogenic | 0.9497 | pathogenic | 0.323 | Stabilizing | 0.988 | D | 0.687 | prob.delet. | None | None | None | None | N |
E/Y | 0.7822 | likely_pathogenic | 0.7314 | pathogenic | 0.288 | Stabilizing | 0.876 | D | 0.623 | 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.