Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21297 | 64114;64115;64116 | chr2:178587322;178587321;178587320 | chr2:179452049;179452048;179452047 |
| N2AB | 19656 | 59191;59192;59193 | chr2:178587322;178587321;178587320 | chr2:179452049;179452048;179452047 |
| N2A | 18729 | 56410;56411;56412 | chr2:178587322;178587321;178587320 | chr2:179452049;179452048;179452047 |
| N2B | 12232 | 36919;36920;36921 | chr2:178587322;178587321;178587320 | chr2:179452049;179452048;179452047 |
| Novex-1 | 12357 | 37294;37295;37296 | chr2:178587322;178587321;178587320 | chr2:179452049;179452048;179452047 |
| Novex-2 | 12424 | 37495;37496;37497 | chr2:178587322;178587321;178587320 | chr2:179452049;179452048;179452047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs372983838  |
None | 0.662 | N | 0.331 | 0.131 | 0.183819452728 | gnomAD-4.0.0 | 2.05373E-06 | None | None | None | None | N | None | 2.99115E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31631E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.0845 | likely_benign | 0.0965 | benign | -0.185 | Destabilizing | 0.187 | N | 0.331 | neutral | None | None | None | None | N |
| Q/C | 0.4197 | ambiguous | 0.4788 | ambiguous | 0.366 | Stabilizing | 0.991 | D | 0.457 | neutral | None | None | None | None | N |
| Q/D | 0.2506 | likely_benign | 0.3097 | benign | -0.062 | Destabilizing | 0.002 | N | 0.111 | neutral | None | None | None | None | N |
| Q/E | 0.085 | likely_benign | 0.0996 | benign | -0.104 | Destabilizing | 0.08 | N | 0.179 | neutral | N | 0.342104682 | None | None | N |
| Q/F | 0.5152 | ambiguous | 0.5527 | ambiguous | -0.459 | Destabilizing | 0.965 | D | 0.481 | neutral | None | None | None | None | N |
| Q/G | 0.2045 | likely_benign | 0.2332 | benign | -0.359 | Destabilizing | 0.345 | N | 0.403 | neutral | None | None | None | None | N |
| Q/H | 0.1322 | likely_benign | 0.1616 | benign | -0.387 | Destabilizing | 0.954 | D | 0.363 | neutral | N | 0.453064673 | None | None | N |
| Q/I | 0.2017 | likely_benign | 0.232 | benign | 0.183 | Stabilizing | 0.901 | D | 0.489 | neutral | None | None | None | None | N |
| Q/K | 0.0938 | likely_benign | 0.106 | benign | 0.159 | Stabilizing | 0.285 | N | 0.257 | neutral | N | 0.398075395 | None | None | N |
| Q/L | 0.0871 | likely_benign | 0.0949 | benign | 0.183 | Stabilizing | 0.491 | N | 0.472 | neutral | N | 0.416413227 | None | None | N |
| Q/M | 0.2092 | likely_benign | 0.2219 | benign | 0.579 | Stabilizing | 0.965 | D | 0.373 | neutral | None | None | None | None | N |
| Q/N | 0.1736 | likely_benign | 0.1963 | benign | -0.047 | Destabilizing | 0.561 | D | 0.275 | neutral | None | None | None | None | N |
| Q/P | 0.0547 | likely_benign | 0.0608 | benign | 0.088 | Stabilizing | None | N | 0.123 | neutral | N | 0.304951803 | None | None | N |
| Q/R | 0.1104 | likely_benign | 0.12 | benign | 0.295 | Stabilizing | 0.662 | D | 0.331 | neutral | N | 0.414815716 | None | None | N |
| Q/S | 0.1133 | likely_benign | 0.1221 | benign | -0.062 | Destabilizing | 0.345 | N | 0.256 | neutral | None | None | None | None | N |
| Q/T | 0.1054 | likely_benign | 0.1193 | benign | 0.043 | Stabilizing | 0.345 | N | 0.401 | neutral | None | None | None | None | N |
| Q/V | 0.1137 | likely_benign | 0.1301 | benign | 0.088 | Stabilizing | 0.722 | D | 0.494 | neutral | None | None | None | None | N |
| Q/W | 0.5167 | ambiguous | 0.5685 | pathogenic | -0.448 | Destabilizing | 0.991 | D | 0.462 | neutral | None | None | None | None | N |
| Q/Y | 0.3668 | ambiguous | 0.4046 | ambiguous | -0.179 | Destabilizing | 0.965 | D | 0.463 | 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.