Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35741 | 107446;107447;107448 | chr2:178528530;178528529;178528528 | chr2:179393257;179393256;179393255 |
| N2AB | 34100 | 102523;102524;102525 | chr2:178528530;178528529;178528528 | chr2:179393257;179393256;179393255 |
| N2A | 33173 | 99742;99743;99744 | chr2:178528530;178528529;178528528 | chr2:179393257;179393256;179393255 |
| N2B | 26676 | 80251;80252;80253 | chr2:178528530;178528529;178528528 | chr2:179393257;179393256;179393255 |
| Novex-1 | 26801 | 80626;80627;80628 | chr2:178528530;178528529;178528528 | chr2:179393257;179393256;179393255 |
| Novex-2 | 26868 | 80827;80828;80829 | chr2:178528530;178528529;178528528 | chr2:179393257;179393256;179393255 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1455118621  |
None | 0.826 | N | 0.332 | 0.267 | 0.306053231325 | gnomAD-4.0.0 | 1.37828E-06 | None | None | None | None | N | None | 6.06502E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs371210082 |
0.094 | 0.704 | N | 0.381 | 0.321 | None | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.15E-06 | 0 |
| P/L | rs371210082 |
0.094 | 0.704 | N | 0.381 | 0.321 | None | gnomAD-4.0.0 | 5.51422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.2372E-06 | 0 | 0 |
| P/R | rs371210082 |
None | 0.988 | N | 0.422 | 0.419 | 0.580315741719 | 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 |
| P/R | rs371210082 |
None | 0.988 | N | 0.422 | 0.419 | 0.580315741719 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| P/S | rs1455118621 |
-0.77 | 0.852 | N | 0.318 | 0.245 | 0.332133492242 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.15E-06 | 0 |
| P/S | rs1455118621 |
-0.77 | 0.852 | N | 0.318 | 0.245 | 0.332133492242 | gnomAD-4.0.0 | 1.37828E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1362 | likely_benign | 0.1482 | benign | -0.673 | Destabilizing | 0.826 | D | 0.332 | neutral | N | 0.468354705 | None | None | N |
| P/C | 0.8322 | likely_pathogenic | 0.8383 | pathogenic | -0.751 | Destabilizing | 0.999 | D | 0.429 | neutral | None | None | None | None | N |
| P/D | 0.8112 | likely_pathogenic | 0.8018 | pathogenic | -0.098 | Destabilizing | 0.884 | D | 0.321 | neutral | None | None | None | None | N |
| P/E | 0.5347 | ambiguous | 0.5402 | ambiguous | -0.14 | Destabilizing | 0.939 | D | 0.315 | neutral | None | None | None | None | N |
| P/F | 0.8018 | likely_pathogenic | 0.8141 | pathogenic | -0.548 | Destabilizing | 0.991 | D | 0.451 | neutral | None | None | None | None | N |
| P/G | 0.6253 | likely_pathogenic | 0.644 | pathogenic | -0.882 | Destabilizing | 0.939 | D | 0.355 | neutral | None | None | None | None | N |
| P/H | 0.4039 | ambiguous | 0.4094 | ambiguous | -0.233 | Destabilizing | 0.991 | D | 0.405 | neutral | None | None | None | None | N |
| P/I | 0.6016 | likely_pathogenic | 0.6229 | pathogenic | -0.24 | Destabilizing | 0.17 | N | 0.306 | neutral | None | None | None | None | N |
| P/K | 0.54 | ambiguous | 0.5145 | ambiguous | -0.544 | Destabilizing | 0.939 | D | 0.346 | neutral | None | None | None | None | N |
| P/L | 0.2109 | likely_benign | 0.2228 | benign | -0.24 | Destabilizing | 0.704 | D | 0.381 | neutral | N | 0.487729899 | None | None | N |
| P/M | 0.5942 | likely_pathogenic | 0.6188 | pathogenic | -0.456 | Destabilizing | 0.991 | D | 0.413 | neutral | None | None | None | None | N |
| P/N | 0.6735 | likely_pathogenic | 0.6848 | pathogenic | -0.459 | Destabilizing | 0.17 | N | 0.257 | neutral | None | None | None | None | N |
| P/Q | 0.2866 | likely_benign | 0.2919 | benign | -0.58 | Destabilizing | 0.988 | D | 0.391 | neutral | N | 0.473568523 | None | None | N |
| P/R | 0.336 | likely_benign | 0.3201 | benign | -0.094 | Destabilizing | 0.988 | D | 0.422 | neutral | N | 0.506142302 | None | None | N |
| P/S | 0.2687 | likely_benign | 0.2916 | benign | -0.928 | Destabilizing | 0.852 | D | 0.318 | neutral | N | 0.504006074 | None | None | N |
| P/T | 0.2671 | likely_benign | 0.2771 | benign | -0.854 | Destabilizing | 0.134 | N | 0.185 | neutral | N | 0.50389143 | None | None | N |
| P/V | 0.4394 | ambiguous | 0.4624 | ambiguous | -0.349 | Destabilizing | 0.17 | N | 0.216 | neutral | None | None | None | None | N |
| P/W | 0.9104 | likely_pathogenic | 0.9104 | pathogenic | -0.669 | Destabilizing | 0.999 | D | 0.527 | neutral | None | None | None | None | N |
| P/Y | 0.7676 | likely_pathogenic | 0.773 | pathogenic | -0.368 | Destabilizing | 0.997 | D | 0.451 | 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.