Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 14378 | 43357;43358;43359 | chr2:178632999;178632998;178632997 | chr2:179497726;179497725;179497724 |
N2AB | 12737 | 38434;38435;38436 | chr2:178632999;178632998;178632997 | chr2:179497726;179497725;179497724 |
N2A | 11810 | 35653;35654;35655 | chr2:178632999;178632998;178632997 | chr2:179497726;179497725;179497724 |
N2B | 5313 | 16162;16163;16164 | chr2:178632999;178632998;178632997 | chr2:179497726;179497725;179497724 |
Novex-1 | 5438 | 16537;16538;16539 | chr2:178632999;178632998;178632997 | chr2:179497726;179497725;179497724 |
Novex-2 | 5505 | 16738;16739;16740 | chr2:178632999;178632998;178632997 | chr2:179497726;179497725;179497724 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H/Q | rs2059987336 | None | 0.052 | N | 0.254 | 0.052 | 0.0986583533028 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
H/Q | rs2059987336 | None | 0.052 | N | 0.254 | 0.052 | 0.0986583533028 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 2.4122E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
H/R | rs878854307 | None | 0.026 | N | 0.217 | 0.106 | 0.0920862733494 | gnomAD-4.0.0 | 1.59267E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86089E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H/A | 0.5095 | ambiguous | 0.462 | ambiguous | -0.451 | Destabilizing | 0.015 | N | 0.268 | neutral | None | None | None | None | N |
H/C | 0.2284 | likely_benign | 0.2122 | benign | 0.102 | Stabilizing | 0.747 | D | 0.361 | neutral | None | None | None | None | N |
H/D | 0.3745 | ambiguous | 0.3529 | ambiguous | -0.567 | Destabilizing | 0.052 | N | 0.361 | neutral | N | 0.436169418 | None | None | N |
H/E | 0.3909 | ambiguous | 0.368 | ambiguous | -0.515 | Destabilizing | 0.029 | N | 0.199 | neutral | None | None | None | None | N |
H/F | 0.3659 | ambiguous | 0.3337 | benign | 0.047 | Stabilizing | 0.007 | N | 0.293 | neutral | None | None | None | None | N |
H/G | 0.403 | ambiguous | 0.3573 | ambiguous | -0.752 | Destabilizing | 0.068 | N | 0.311 | neutral | None | None | None | None | N |
H/I | 0.595 | likely_pathogenic | 0.5332 | ambiguous | 0.354 | Stabilizing | 0.035 | N | 0.42 | neutral | None | None | None | None | N |
H/K | 0.2541 | likely_benign | 0.2328 | benign | -0.368 | Destabilizing | 0.035 | N | 0.342 | neutral | None | None | None | None | N |
H/L | 0.234 | likely_benign | 0.2112 | benign | 0.354 | Stabilizing | 0.006 | N | 0.287 | neutral | N | 0.431130499 | None | None | N |
H/M | 0.7029 | likely_pathogenic | 0.6443 | pathogenic | 0.324 | Stabilizing | 0.204 | N | 0.335 | neutral | None | None | None | None | N |
H/N | 0.1607 | likely_benign | 0.1554 | benign | -0.29 | Destabilizing | 0.052 | N | 0.247 | neutral | N | 0.431996154 | None | None | N |
H/P | 0.2607 | likely_benign | 0.2777 | benign | 0.107 | Stabilizing | 0.371 | N | 0.472 | neutral | N | 0.431674792 | None | None | N |
H/Q | 0.2205 | likely_benign | 0.2026 | benign | -0.149 | Destabilizing | 0.052 | N | 0.254 | neutral | N | 0.435944658 | None | None | N |
H/R | 0.0987 | likely_benign | 0.0943 | benign | -0.626 | Destabilizing | 0.026 | N | 0.217 | neutral | N | 0.418288309 | None | None | N |
H/S | 0.3434 | ambiguous | 0.3149 | benign | -0.33 | Destabilizing | 0.035 | N | 0.295 | neutral | None | None | None | None | N |
H/T | 0.4723 | ambiguous | 0.4057 | ambiguous | -0.191 | Destabilizing | 0.035 | N | 0.335 | neutral | None | None | None | None | N |
H/V | 0.5144 | ambiguous | 0.4614 | ambiguous | 0.107 | Stabilizing | 0.015 | N | 0.333 | neutral | None | None | None | None | N |
H/W | 0.3217 | likely_benign | 0.2904 | benign | 0.03 | Stabilizing | 0.204 | N | 0.351 | neutral | None | None | None | None | N |
H/Y | 0.0663 | likely_benign | 0.0658 | benign | 0.402 | Stabilizing | None | N | 0.049 | neutral | N | 0.380097531 | 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.