Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30836 | 92731;92732;92733 | chr2:178549120;178549119;178549118 | chr2:179413847;179413846;179413845 |
| N2AB | 29195 | 87808;87809;87810 | chr2:178549120;178549119;178549118 | chr2:179413847;179413846;179413845 |
| N2A | 28268 | 85027;85028;85029 | chr2:178549120;178549119;178549118 | chr2:179413847;179413846;179413845 |
| N2B | 21771 | 65536;65537;65538 | chr2:178549120;178549119;178549118 | chr2:179413847;179413846;179413845 |
| Novex-1 | 21896 | 65911;65912;65913 | chr2:178549120;178549119;178549118 | chr2:179413847;179413846;179413845 |
| Novex-2 | 21963 | 66112;66113;66114 | chr2:178549120;178549119;178549118 | chr2:179413847;179413846;179413845 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.971 | N | 0.625 | 0.523 | 0.461495907335 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| T/P | rs762590394  |
-0.278 | 0.971 | N | 0.624 | 0.478 | 0.386721274199 | gnomAD-2.1.1 | 1.64091E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.35946E-03 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs762590394 |
-0.278 | 0.971 | N | 0.624 | 0.478 | 0.386721274199 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.34875E-03 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs762590394 |
-0.278 | 0.971 | N | 0.624 | 0.478 | 0.386721274199 | gnomAD-4.0.0 | 1.01006E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.60979E-03 | None | 0 | 0 | 0 | 0 | 1.60102E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0972 | likely_benign | 0.0953 | benign | -0.667 | Destabilizing | 0.489 | N | 0.425 | neutral | N | 0.478239455 | None | None | N |
| T/C | 0.4324 | ambiguous | 0.4314 | ambiguous | -0.32 | Destabilizing | 0.998 | D | 0.583 | neutral | None | None | None | None | N |
| T/D | 0.3456 | ambiguous | 0.3164 | benign | -0.319 | Destabilizing | 0.956 | D | 0.577 | neutral | None | None | None | None | N |
| T/E | 0.345 | ambiguous | 0.3196 | benign | -0.38 | Destabilizing | 0.956 | D | 0.573 | neutral | None | None | None | None | N |
| T/F | 0.2872 | likely_benign | 0.2873 | benign | -1.138 | Destabilizing | 0.978 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/G | 0.2321 | likely_benign | 0.2251 | benign | -0.823 | Destabilizing | 0.754 | D | 0.543 | neutral | None | None | None | None | N |
| T/H | 0.2183 | likely_benign | 0.2086 | benign | -1.291 | Destabilizing | 0.994 | D | 0.643 | neutral | None | None | None | None | N |
| T/I | 0.4065 | ambiguous | 0.3854 | ambiguous | -0.359 | Destabilizing | 0.971 | D | 0.625 | neutral | N | 0.501205555 | None | None | N |
| T/K | 0.2419 | likely_benign | 0.2184 | benign | -0.516 | Destabilizing | 0.89 | D | 0.579 | neutral | N | 0.507384735 | None | None | N |
| T/L | 0.1564 | likely_benign | 0.1449 | benign | -0.359 | Destabilizing | 0.86 | D | 0.56 | neutral | None | None | None | None | N |
| T/M | 0.0953 | likely_benign | 0.0938 | benign | 0.156 | Stabilizing | 0.998 | D | 0.585 | neutral | None | None | None | None | N |
| T/N | 0.0949 | likely_benign | 0.0885 | benign | -0.344 | Destabilizing | 0.915 | D | 0.566 | neutral | None | None | None | None | N |
| T/P | 0.6773 | likely_pathogenic | 0.653 | pathogenic | -0.433 | Destabilizing | 0.971 | D | 0.624 | neutral | N | 0.519816789 | None | None | N |
| T/Q | 0.2232 | likely_benign | 0.2115 | benign | -0.681 | Destabilizing | 0.956 | D | 0.621 | neutral | None | None | None | None | N |
| T/R | 0.2058 | likely_benign | 0.1992 | benign | -0.223 | Destabilizing | 0.942 | D | 0.627 | neutral | N | 0.500208046 | None | None | N |
| T/S | 0.0856 | likely_benign | 0.0831 | benign | -0.555 | Destabilizing | 0.058 | N | 0.183 | neutral | N | 0.403948149 | None | None | N |
| T/V | 0.2885 | likely_benign | 0.2721 | benign | -0.433 | Destabilizing | 0.86 | D | 0.525 | neutral | None | None | None | None | N |
| T/W | 0.6542 | likely_pathogenic | 0.652 | pathogenic | -1.07 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2695 | likely_benign | 0.259 | benign | -0.803 | Destabilizing | 0.993 | D | 0.677 | prob.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.