Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2646 | 8161;8162;8163 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
| N2AB | 2646 | 8161;8162;8163 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
| N2A | 2646 | 8161;8162;8163 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
| N2B | 2600 | 8023;8024;8025 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
| Novex-1 | 2600 | 8023;8024;8025 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
| Novex-2 | 2600 | 8023;8024;8025 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
| Novex-3 | 2646 | 8161;8162;8163 | chr2:178771391;178771390;178771389 | chr2:179636118;179636117;179636116 |
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/L | rs1303067253  |
-0.193 | 0.999 | N | 0.676 | 0.459 | 0.302459207581 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1303067253 |
-0.193 | 0.999 | N | 0.676 | 0.459 | 0.302459207581 | gnomAD-4.0.0 | 1.59081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77454E-05 | None | 0 | 0 | 0 | 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 | 0.0939 | likely_benign | 0.1025 | benign | -0.829 | Destabilizing | 0.767 | D | 0.303 | neutral | N | 0.354313352 | None | None | N |
| P/C | 0.7168 | likely_pathogenic | 0.6962 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| P/D | 0.507 | ambiguous | 0.5402 | ambiguous | -0.777 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| P/E | 0.2967 | likely_benign | 0.3241 | benign | -0.904 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| P/F | 0.6437 | likely_pathogenic | 0.6503 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| P/G | 0.4019 | ambiguous | 0.422 | ambiguous | -0.976 | Destabilizing | 0.997 | D | 0.57 | neutral | None | None | None | None | N |
| P/H | 0.2957 | likely_benign | 0.3059 | benign | -0.566 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| P/I | 0.3443 | ambiguous | 0.3559 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/K | 0.3024 | likely_benign | 0.3199 | benign | -0.531 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| P/L | 0.1631 | likely_benign | 0.1783 | benign | -0.585 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | N | 0.470093833 | None | None | N |
| P/M | 0.4051 | ambiguous | 0.4096 | ambiguous | -0.251 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| P/N | 0.4807 | ambiguous | 0.5002 | ambiguous | -0.201 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| P/Q | 0.2171 | likely_benign | 0.2396 | benign | -0.547 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.4490531 | None | None | N |
| P/R | 0.2104 | likely_benign | 0.2254 | benign | 0.085 | Stabilizing | 0.999 | D | 0.665 | neutral | N | 0.485489437 | None | None | N |
| P/S | 0.1613 | likely_benign | 0.1754 | benign | -0.556 | Destabilizing | 0.992 | D | 0.574 | neutral | N | 0.425309836 | None | None | N |
| P/T | 0.1239 | likely_benign | 0.1355 | benign | -0.59 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.433514881 | None | None | N |
| P/V | 0.2553 | likely_benign | 0.2633 | benign | -0.632 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| P/W | 0.7545 | likely_pathogenic | 0.7652 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/Y | 0.6058 | likely_pathogenic | 0.613 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.