Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 23025 | 69298;69299;69300 | chr2:178577262;178577261;178577260 | chr2:179441989;179441988;179441987 |
N2AB | 21384 | 64375;64376;64377 | chr2:178577262;178577261;178577260 | chr2:179441989;179441988;179441987 |
N2A | 20457 | 61594;61595;61596 | chr2:178577262;178577261;178577260 | chr2:179441989;179441988;179441987 |
N2B | 13960 | 42103;42104;42105 | chr2:178577262;178577261;178577260 | chr2:179441989;179441988;179441987 |
Novex-1 | 14085 | 42478;42479;42480 | chr2:178577262;178577261;178577260 | chr2:179441989;179441988;179441987 |
Novex-2 | 14152 | 42679;42680;42681 | chr2:178577262;178577261;178577260 | chr2:179441989;179441988;179441987 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | None | None | 0.016 | N | 0.39 | 0.19 | 0.185906805712 | gnomAD-4.0.0 | 6.84462E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15974E-05 | 0 |
P/L | None | None | 0.898 | N | 0.594 | 0.399 | 0.5073929853 | gnomAD-4.0.0 | 1.59262E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85997E-06 | 0 | 0 |
P/S | None | None | 0.898 | N | 0.517 | 0.247 | 0.24896430686 | gnomAD-4.0.0 | 6.84462E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53036E-05 | None | 0 | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.143 | likely_benign | 0.1359 | benign | -0.507 | Destabilizing | 0.016 | N | 0.39 | neutral | N | 0.470469503 | None | None | I |
P/C | 0.6865 | likely_pathogenic | 0.687 | pathogenic | -0.735 | Destabilizing | 0.994 | D | 0.707 | prob.neutral | None | None | None | None | I |
P/D | 0.7095 | likely_pathogenic | 0.7257 | pathogenic | -0.243 | Destabilizing | 0.959 | D | 0.57 | neutral | None | None | None | None | I |
P/E | 0.5581 | ambiguous | 0.5793 | pathogenic | -0.331 | Destabilizing | 0.959 | D | 0.567 | neutral | None | None | None | None | I |
P/F | 0.8236 | likely_pathogenic | 0.7822 | pathogenic | -0.678 | Destabilizing | 0.994 | D | 0.68 | prob.neutral | None | None | None | None | I |
P/G | 0.5493 | ambiguous | 0.5802 | pathogenic | -0.639 | Destabilizing | 0.769 | D | 0.493 | neutral | None | None | None | None | I |
P/H | 0.4625 | ambiguous | 0.4415 | ambiguous | -0.097 | Destabilizing | 0.998 | D | 0.657 | neutral | N | 0.486124083 | None | None | I |
P/I | 0.4568 | ambiguous | 0.3931 | ambiguous | -0.298 | Destabilizing | 0.959 | D | 0.672 | neutral | None | None | None | None | I |
P/K | 0.6499 | likely_pathogenic | 0.6566 | pathogenic | -0.431 | Destabilizing | 0.959 | D | 0.572 | neutral | None | None | None | None | I |
P/L | 0.2663 | likely_benign | 0.2411 | benign | -0.298 | Destabilizing | 0.898 | D | 0.594 | neutral | N | 0.512105482 | None | None | I |
P/M | 0.5232 | ambiguous | 0.4797 | ambiguous | -0.537 | Destabilizing | 0.994 | D | 0.653 | neutral | None | None | None | None | I |
P/N | 0.5402 | ambiguous | 0.5424 | ambiguous | -0.254 | Destabilizing | 0.979 | D | 0.64 | neutral | None | None | None | None | I |
P/Q | 0.4063 | ambiguous | 0.404 | ambiguous | -0.436 | Destabilizing | 0.979 | D | 0.587 | neutral | None | None | None | None | I |
P/R | 0.4835 | ambiguous | 0.4819 | ambiguous | 0.043 | Stabilizing | 0.946 | D | 0.64 | neutral | N | 0.507545024 | None | None | I |
P/S | 0.2335 | likely_benign | 0.2639 | benign | -0.625 | Destabilizing | 0.898 | D | 0.517 | neutral | N | 0.474525742 | None | None | I |
P/T | 0.1861 | likely_benign | 0.1835 | benign | -0.606 | Destabilizing | 0.898 | D | 0.537 | neutral | N | 0.486169674 | None | None | I |
P/V | 0.3311 | likely_benign | 0.2873 | benign | -0.335 | Destabilizing | 0.921 | D | 0.525 | neutral | None | None | None | None | I |
P/W | 0.9111 | likely_pathogenic | 0.8991 | pathogenic | -0.754 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | I |
P/Y | 0.736 | likely_pathogenic | 0.7123 | pathogenic | -0.466 | Destabilizing | 0.998 | D | 0.681 | prob.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.