Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31668 | 95227;95228;95229 | chr2:178546329;178546328;178546327 | chr2:179411056;179411055;179411054 |
| N2AB | 30027 | 90304;90305;90306 | chr2:178546329;178546328;178546327 | chr2:179411056;179411055;179411054 |
| N2A | 29100 | 87523;87524;87525 | chr2:178546329;178546328;178546327 | chr2:179411056;179411055;179411054 |
| N2B | 22603 | 68032;68033;68034 | chr2:178546329;178546328;178546327 | chr2:179411056;179411055;179411054 |
| Novex-1 | 22728 | 68407;68408;68409 | chr2:178546329;178546328;178546327 | chr2:179411056;179411055;179411054 |
| Novex-2 | 22795 | 68608;68609;68610 | chr2:178546329;178546328;178546327 | chr2:179411056;179411055;179411054 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1196141227  |
-0.88 | 0.175 | N | 0.43 | 0.282 | 0.202949470691 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs1196141227 |
-0.88 | 0.175 | N | 0.43 | 0.282 | 0.202949470691 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| G/D | rs1196141227 |
-0.88 | 0.175 | N | 0.43 | 0.282 | 0.202949470691 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| G/S | rs577136681 |
-1.132 | None | N | 0.133 | 0.116 | 0.170165803431 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs577136681 |
-1.132 | None | N | 0.133 | 0.116 | 0.170165803431 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| G/S | rs577136681 |
-1.132 | None | N | 0.133 | 0.116 | 0.170165803431 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/S | rs577136681 |
-1.132 | None | N | 0.133 | 0.116 | 0.170165803431 | gnomAD-4.0.0 | 2.47861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54286E-06 | 1.09796E-05 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.135 | likely_benign | 0.134 | benign | -0.325 | Destabilizing | 0.001 | N | 0.168 | neutral | N | 0.494673648 | None | None | N |
| G/C | 0.2423 | likely_benign | 0.243 | benign | -0.837 | Destabilizing | 0.851 | D | 0.495 | neutral | N | 0.491338555 | None | None | N |
| G/D | 0.24 | likely_benign | 0.2377 | benign | -0.68 | Destabilizing | 0.175 | N | 0.43 | neutral | N | 0.413036487 | None | None | N |
| G/E | 0.2444 | likely_benign | 0.2387 | benign | -0.843 | Destabilizing | 0.124 | N | 0.433 | neutral | None | None | None | None | N |
| G/F | 0.6928 | likely_pathogenic | 0.6665 | pathogenic | -1.047 | Destabilizing | 0.667 | D | 0.523 | neutral | None | None | None | None | N |
| G/H | 0.4227 | ambiguous | 0.3974 | ambiguous | -0.706 | Destabilizing | 0.667 | D | 0.478 | neutral | None | None | None | None | N |
| G/I | 0.3901 | ambiguous | 0.3926 | ambiguous | -0.431 | Destabilizing | 0.497 | N | 0.522 | neutral | None | None | None | None | N |
| G/K | 0.4477 | ambiguous | 0.4186 | ambiguous | -0.934 | Destabilizing | 0.124 | N | 0.434 | neutral | None | None | None | None | N |
| G/L | 0.4167 | ambiguous | 0.4087 | ambiguous | -0.431 | Destabilizing | 0.22 | N | 0.494 | neutral | None | None | None | None | N |
| G/M | 0.4978 | ambiguous | 0.4879 | ambiguous | -0.438 | Destabilizing | 0.859 | D | 0.501 | neutral | None | None | None | None | N |
| G/N | 0.2395 | likely_benign | 0.227 | benign | -0.514 | Destabilizing | 0.124 | N | 0.413 | neutral | None | None | None | None | N |
| G/P | 0.5307 | ambiguous | 0.5175 | ambiguous | -0.362 | Destabilizing | 0.001 | N | 0.329 | neutral | None | None | None | None | N |
| G/Q | 0.3107 | likely_benign | 0.297 | benign | -0.809 | Destabilizing | 0.497 | N | 0.515 | neutral | None | None | None | None | N |
| G/R | 0.3119 | likely_benign | 0.291 | benign | -0.502 | Destabilizing | 0.001 | N | 0.348 | neutral | N | 0.510565821 | None | None | N |
| G/S | 0.0905 | likely_benign | 0.0888 | benign | -0.635 | Destabilizing | None | N | 0.133 | neutral | N | 0.474701021 | None | None | N |
| G/T | 0.1874 | likely_benign | 0.1903 | benign | -0.734 | Destabilizing | 0.124 | N | 0.431 | neutral | None | None | None | None | N |
| G/V | 0.2579 | likely_benign | 0.261 | benign | -0.362 | Destabilizing | 0.175 | N | 0.497 | neutral | N | 0.506584153 | None | None | N |
| G/W | 0.5004 | ambiguous | 0.4878 | ambiguous | -1.225 | Destabilizing | 0.958 | D | 0.495 | neutral | None | None | None | None | N |
| G/Y | 0.5363 | ambiguous | 0.5052 | ambiguous | -0.873 | Destabilizing | 0.667 | D | 0.523 | 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.