Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5083 | 15472;15473;15474 | chr2:178734577;178734576;178734575 | chr2:179599304;179599303;179599302 |
N2AB | 4766 | 14521;14522;14523 | chr2:178734577;178734576;178734575 | chr2:179599304;179599303;179599302 |
N2A | 3839 | 11740;11741;11742 | chr2:178734577;178734576;178734575 | chr2:179599304;179599303;179599302 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
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 | 0.183 | D | 0.301 | 0.27 | 0.231231049324 | gnomAD-4.0.0 | 9.80048E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27838E-05 | 0 | 0 |
P/T | rs1465484453 | None | 0.003 | N | 0.107 | 0.225 | 0.332133492242 | gnomAD-4.0.0 | 1.40007E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.82626E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.0955 | likely_benign | 0.0735 | benign | -0.425 | Destabilizing | 0.183 | N | 0.301 | neutral | D | 0.543364656 | None | None | N |
P/C | 0.6754 | likely_pathogenic | 0.5432 | ambiguous | -0.368 | Destabilizing | 0.983 | D | 0.369 | neutral | None | None | None | None | N |
P/D | 0.5348 | ambiguous | 0.3749 | ambiguous | -0.679 | Destabilizing | 0.418 | N | 0.403 | neutral | None | None | None | None | N |
P/E | 0.3602 | ambiguous | 0.2501 | benign | -0.819 | Destabilizing | 0.418 | N | 0.331 | neutral | None | None | None | None | N |
P/F | 0.6927 | likely_pathogenic | 0.5295 | ambiguous | -0.842 | Destabilizing | 0.002 | N | 0.223 | neutral | None | None | None | None | N |
P/G | 0.4262 | ambiguous | 0.2888 | benign | -0.529 | Destabilizing | 0.418 | N | 0.379 | neutral | None | None | None | None | N |
P/H | 0.3172 | likely_benign | 0.2108 | benign | -0.259 | Destabilizing | 0.794 | D | 0.361 | neutral | D | 0.656200999 | None | None | N |
P/I | 0.4786 | ambiguous | 0.3534 | ambiguous | -0.307 | Destabilizing | 0.264 | N | 0.375 | neutral | None | None | None | None | N |
P/K | 0.3941 | ambiguous | 0.2774 | benign | -0.433 | Destabilizing | 0.264 | N | 0.303 | neutral | None | None | None | None | N |
P/L | 0.1851 | likely_benign | 0.1418 | benign | -0.307 | Destabilizing | 0.001 | N | 0.16 | neutral | N | 0.520880958 | None | None | N |
P/M | 0.4213 | ambiguous | 0.3089 | benign | -0.259 | Destabilizing | 0.061 | N | 0.211 | neutral | None | None | None | None | N |
P/N | 0.4387 | ambiguous | 0.2854 | benign | -0.04 | Destabilizing | 0.418 | N | 0.462 | neutral | None | None | None | None | N |
P/Q | 0.2377 | likely_benign | 0.1576 | benign | -0.357 | Destabilizing | 0.716 | D | 0.43 | neutral | None | None | None | None | N |
P/R | 0.2774 | likely_benign | 0.1912 | benign | 0.127 | Stabilizing | 0.002 | N | 0.211 | neutral | D | 0.598540719 | None | None | N |
P/S | 0.1821 | likely_benign | 0.1179 | benign | -0.273 | Destabilizing | 0.101 | N | 0.307 | neutral | N | 0.514246674 | None | None | N |
P/T | 0.1494 | likely_benign | 0.1022 | benign | -0.33 | Destabilizing | 0.003 | N | 0.107 | neutral | N | 0.515242999 | None | None | N |
P/V | 0.3172 | likely_benign | 0.2329 | benign | -0.313 | Destabilizing | 0.129 | N | 0.305 | neutral | None | None | None | None | N |
P/W | 0.839 | likely_pathogenic | 0.719 | pathogenic | -0.931 | Destabilizing | 0.983 | D | 0.373 | neutral | None | None | None | None | N |
P/Y | 0.6323 | likely_pathogenic | 0.4764 | ambiguous | -0.624 | Destabilizing | 0.557 | D | 0.475 | 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.