Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8238 | 24937;24938;24939 | chr2:178718394;178718393;178718392 | chr2:179583121;179583120;179583119 |
| N2AB | 7921 | 23986;23987;23988 | chr2:178718394;178718393;178718392 | chr2:179583121;179583120;179583119 |
| N2A | 6994 | 21205;21206;21207 | chr2:178718394;178718393;178718392 | chr2:179583121;179583120;179583119 |
| 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs202193812  |
-0.381 | 0.958 | N | 0.456 | 0.261 | 0.690156929516 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66003E-04 |
| Y/C | rs202193812 |
-0.381 | 0.958 | N | 0.456 | 0.261 | 0.690156929516 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs202193812 |
-0.381 | 0.958 | N | 0.456 | 0.261 | 0.690156929516 | gnomAD-4.0.0 | 1.23938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69527E-06 | 0 | 0 |
| Y/F | rs202193812 |
None | 0.68 | N | 0.493 | 0.153 | 0.483596354421 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99494E-07 | 0 | 1.65656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.2113 | likely_benign | 0.2226 | benign | -1.422 | Destabilizing | 0.003 | N | 0.17 | neutral | None | None | None | None | N |
| Y/C | 0.1313 | likely_benign | 0.1306 | benign | -0.388 | Destabilizing | 0.958 | D | 0.456 | neutral | N | 0.486516391 | None | None | N |
| Y/D | 0.1075 | likely_benign | 0.1174 | benign | 0.599 | Stabilizing | 0.001 | N | 0.272 | neutral | N | 0.414365504 | None | None | N |
| Y/E | 0.2957 | likely_benign | 0.3055 | benign | 0.637 | Stabilizing | 0.002 | N | 0.181 | neutral | None | None | None | None | N |
| Y/F | 0.1114 | likely_benign | 0.1131 | benign | -0.515 | Destabilizing | 0.68 | D | 0.493 | neutral | N | 0.478974343 | None | None | N |
| Y/G | 0.1888 | likely_benign | 0.2052 | benign | -1.677 | Destabilizing | 0.2 | N | 0.264 | neutral | None | None | None | None | N |
| Y/H | 0.1195 | likely_benign | 0.1304 | benign | -0.17 | Destabilizing | 0.003 | N | 0.144 | neutral | N | 0.497213387 | None | None | N |
| Y/I | 0.3748 | ambiguous | 0.3942 | ambiguous | -0.71 | Destabilizing | 0.582 | D | 0.525 | neutral | None | None | None | None | N |
| Y/K | 0.3048 | likely_benign | 0.346 | ambiguous | -0.388 | Destabilizing | 0.111 | N | 0.279 | neutral | None | None | None | None | N |
| Y/L | 0.3701 | ambiguous | 0.389 | ambiguous | -0.71 | Destabilizing | 0.2 | N | 0.317 | neutral | None | None | None | None | N |
| Y/M | 0.4701 | ambiguous | 0.475 | ambiguous | -0.492 | Destabilizing | 0.968 | D | 0.463 | neutral | None | None | None | None | N |
| Y/N | 0.0738 | likely_benign | 0.0888 | benign | -0.658 | Destabilizing | 0.178 | N | 0.322 | neutral | N | 0.485649599 | None | None | N |
| Y/P | 0.7409 | likely_pathogenic | 0.7489 | pathogenic | -0.933 | Destabilizing | 0.738 | D | 0.512 | neutral | None | None | None | None | N |
| Y/Q | 0.2626 | likely_benign | 0.2804 | benign | -0.575 | Destabilizing | 0.223 | N | 0.471 | neutral | None | None | None | None | N |
| Y/R | 0.1936 | likely_benign | 0.2206 | benign | -0.027 | Destabilizing | 0.008 | N | 0.2 | neutral | None | None | None | None | N |
| Y/S | 0.0812 | likely_benign | 0.0875 | benign | -1.228 | Destabilizing | 0.006 | N | 0.173 | neutral | N | 0.372073378 | None | None | N |
| Y/T | 0.1847 | likely_benign | 0.1936 | benign | -1.099 | Destabilizing | 0.008 | N | 0.181 | neutral | None | None | None | None | N |
| Y/V | 0.2578 | likely_benign | 0.2615 | benign | -0.933 | Destabilizing | 0.365 | N | 0.339 | neutral | None | None | None | None | N |
| Y/W | 0.4738 | ambiguous | 0.4717 | ambiguous | -0.331 | Destabilizing | 0.968 | D | 0.488 | 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.