Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15314 | 46165;46166;46167 | chr2:178620581;178620580;178620579 | chr2:179485308;179485307;179485306 |
| N2AB | 13673 | 41242;41243;41244 | chr2:178620581;178620580;178620579 | chr2:179485308;179485307;179485306 |
| N2A | 12746 | 38461;38462;38463 | chr2:178620581;178620580;178620579 | chr2:179485308;179485307;179485306 |
| N2B | 6249 | 18970;18971;18972 | chr2:178620581;178620580;178620579 | chr2:179485308;179485307;179485306 |
| Novex-1 | 6374 | 19345;19346;19347 | chr2:178620581;178620580;178620579 | chr2:179485308;179485307;179485306 |
| Novex-2 | 6441 | 19546;19547;19548 | chr2:178620581;178620580;178620579 | chr2:179485308;179485307;179485306 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/L | rs1391292606  |
None | None | N | 0.161 | 0.212 | 0.474643619859 | gnomAD-4.0.0 | 6.85269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00408E-07 | 0 | 0 |
| M/V | rs1391292606 |
-0.259 | 0.047 | N | 0.255 | 0.183 | 0.441636318388 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| M/V | rs1391292606 |
-0.259 | 0.047 | N | 0.255 | 0.183 | 0.441636318388 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/V | rs1391292606 |
-0.259 | 0.047 | N | 0.255 | 0.183 | 0.441636318388 | gnomAD-4.0.0 | 3.10318E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54553E-06 | 0 | 3.20935E-05 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.3517 | ambiguous | 0.3034 | benign | -0.621 | Destabilizing | 0.228 | N | 0.404 | neutral | None | None | None | None | N |
| M/C | 0.8337 | likely_pathogenic | 0.847 | pathogenic | -0.575 | Destabilizing | 0.94 | D | 0.418 | neutral | None | None | None | None | N |
| M/D | 0.7953 | likely_pathogenic | 0.8121 | pathogenic | 0.288 | Stabilizing | 0.418 | N | 0.479 | neutral | None | None | None | None | N |
| M/E | 0.3725 | ambiguous | 0.3709 | ambiguous | 0.252 | Stabilizing | 0.129 | N | 0.514 | neutral | None | None | None | None | N |
| M/F | 0.4485 | ambiguous | 0.3816 | ambiguous | -0.106 | Destabilizing | 0.264 | N | 0.323 | neutral | None | None | None | None | N |
| M/G | 0.6358 | likely_pathogenic | 0.5933 | pathogenic | -0.825 | Destabilizing | 0.593 | D | 0.507 | neutral | None | None | None | None | N |
| M/H | 0.68 | likely_pathogenic | 0.644 | pathogenic | 0.05 | Stabilizing | 0.836 | D | 0.47 | neutral | None | None | None | None | N |
| M/I | 0.4499 | ambiguous | 0.3467 | ambiguous | -0.165 | Destabilizing | 0.101 | N | 0.379 | neutral | N | 0.485117775 | None | None | N |
| M/K | 0.2673 | likely_benign | 0.2091 | benign | 0.248 | Stabilizing | 0.101 | N | 0.464 | neutral | N | 0.493973913 | None | None | N |
| M/L | 0.1797 | likely_benign | 0.139 | benign | -0.165 | Destabilizing | None | N | 0.161 | neutral | N | 0.46584429 | None | None | N |
| M/N | 0.5851 | likely_pathogenic | 0.5509 | ambiguous | 0.384 | Stabilizing | 0.593 | D | 0.5 | neutral | None | None | None | None | N |
| M/P | 0.6507 | likely_pathogenic | 0.6303 | pathogenic | -0.287 | Destabilizing | 0.816 | D | 0.489 | neutral | None | None | None | None | N |
| M/Q | 0.2356 | likely_benign | 0.2084 | benign | 0.244 | Stabilizing | 0.012 | N | 0.159 | neutral | None | None | None | None | N |
| M/R | 0.2813 | likely_benign | 0.2059 | benign | 0.744 | Stabilizing | 0.351 | N | 0.447 | neutral | N | 0.497841009 | None | None | N |
| M/S | 0.4194 | ambiguous | 0.3824 | ambiguous | -0.112 | Destabilizing | 0.228 | N | 0.457 | neutral | None | None | None | None | N |
| M/T | 0.2126 | likely_benign | 0.1589 | benign | -0.043 | Destabilizing | 0.183 | N | 0.44 | neutral | N | 0.464269397 | None | None | N |
| M/V | 0.0949 | likely_benign | 0.0748 | benign | -0.287 | Destabilizing | 0.047 | N | 0.255 | neutral | N | 0.484261156 | None | None | N |
| M/W | 0.7397 | likely_pathogenic | 0.6777 | pathogenic | -0.078 | Destabilizing | 0.983 | D | 0.418 | neutral | None | None | None | None | N |
| M/Y | 0.697 | likely_pathogenic | 0.6588 | pathogenic | 0.035 | Stabilizing | 0.836 | D | 0.435 | 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.