Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18632 | 56119;56120;56121 | chr2:178601010;178601009;178601008 | chr2:179465737;179465736;179465735 |
| N2AB | 16991 | 51196;51197;51198 | chr2:178601010;178601009;178601008 | chr2:179465737;179465736;179465735 |
| N2A | 16064 | 48415;48416;48417 | chr2:178601010;178601009;178601008 | chr2:179465737;179465736;179465735 |
| N2B | 9567 | 28924;28925;28926 | chr2:178601010;178601009;178601008 | chr2:179465737;179465736;179465735 |
| Novex-1 | 9692 | 29299;29300;29301 | chr2:178601010;178601009;178601008 | chr2:179465737;179465736;179465735 |
| Novex-2 | 9759 | 29500;29501;29502 | chr2:178601010;178601009;178601008 | chr2:179465737;179465736;179465735 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs563589789  |
0.186 | 0.027 | N | 0.434 | 0.191 | 0.124217242631 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs563589789 |
0.186 | 0.027 | N | 0.434 | 0.191 | 0.124217242631 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs563589789 |
0.186 | 0.027 | N | 0.434 | 0.191 | 0.124217242631 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/S | rs563589789 |
0.186 | 0.027 | N | 0.434 | 0.191 | 0.124217242631 | gnomAD-4.0.0 | 2.6304E-05 | None | None | None | None | I | None | 9.63438E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | None | None | 0.117 | N | 0.445 | 0.165 | 0.193865811164 | gnomAD-4.0.0 | 2.73784E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59899E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4515 | ambiguous | 0.4601 | ambiguous | -0.077 | Destabilizing | 0.035 | N | 0.399 | neutral | None | None | None | None | I |
| R/C | 0.2514 | likely_benign | 0.2392 | benign | 0.057 | Stabilizing | 0.935 | D | 0.411 | neutral | None | None | None | None | I |
| R/D | 0.7142 | likely_pathogenic | 0.7228 | pathogenic | 0.038 | Stabilizing | 0.149 | N | 0.491 | neutral | None | None | None | None | I |
| R/E | 0.3397 | likely_benign | 0.3361 | benign | 0.14 | Stabilizing | 0.035 | N | 0.346 | neutral | None | None | None | None | I |
| R/F | 0.504 | ambiguous | 0.5015 | ambiguous | -0.022 | Destabilizing | 0.791 | D | 0.433 | neutral | None | None | None | None | I |
| R/G | 0.3448 | ambiguous | 0.347 | ambiguous | -0.357 | Destabilizing | 0.117 | N | 0.461 | neutral | N | 0.519385666 | None | None | I |
| R/H | 0.1231 | likely_benign | 0.1123 | benign | -0.946 | Destabilizing | 0.555 | D | 0.483 | neutral | None | None | None | None | I |
| R/I | 0.2073 | likely_benign | 0.2175 | benign | 0.651 | Stabilizing | 0.555 | D | 0.451 | neutral | None | None | None | None | I |
| R/K | 0.0678 | likely_benign | 0.0632 | benign | -0.098 | Destabilizing | None | N | 0.184 | neutral | N | 0.394496372 | None | None | I |
| R/L | 0.2278 | likely_benign | 0.2371 | benign | 0.651 | Stabilizing | 0.149 | N | 0.461 | neutral | None | None | None | None | I |
| R/M | 0.2379 | likely_benign | 0.2477 | benign | 0.21 | Stabilizing | 0.741 | D | 0.467 | neutral | N | 0.46443646 | None | None | I |
| R/N | 0.5046 | ambiguous | 0.5104 | ambiguous | 0.337 | Stabilizing | 0.149 | N | 0.405 | neutral | None | None | None | None | I |
| R/P | 0.9034 | likely_pathogenic | 0.9219 | pathogenic | 0.431 | Stabilizing | 0.262 | N | 0.496 | neutral | None | None | None | None | I |
| R/Q | 0.1079 | likely_benign | 0.1047 | benign | 0.238 | Stabilizing | 0.081 | N | 0.426 | neutral | None | None | None | None | I |
| R/S | 0.4777 | ambiguous | 0.4746 | ambiguous | -0.108 | Destabilizing | 0.027 | N | 0.434 | neutral | N | 0.459894645 | None | None | I |
| R/T | 0.2326 | likely_benign | 0.2286 | benign | 0.156 | Stabilizing | 0.117 | N | 0.445 | neutral | N | 0.416181153 | None | None | I |
| R/V | 0.2751 | likely_benign | 0.2803 | benign | 0.431 | Stabilizing | 0.149 | N | 0.497 | neutral | None | None | None | None | I |
| R/W | 0.2259 | likely_benign | 0.2265 | benign | 0.076 | Stabilizing | 0.915 | D | 0.418 | neutral | N | 0.486132131 | None | None | I |
| R/Y | 0.4184 | ambiguous | 0.4189 | ambiguous | 0.433 | Stabilizing | 0.555 | D | 0.459 | neutral | None | None | None | None | I |
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.