Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15485 | 46678;46679;46680 | chr2:178619864;178619863;178619862 | chr2:179484591;179484590;179484589 |
| N2AB | 13844 | 41755;41756;41757 | chr2:178619864;178619863;178619862 | chr2:179484591;179484590;179484589 |
| N2A | 12917 | 38974;38975;38976 | chr2:178619864;178619863;178619862 | chr2:179484591;179484590;179484589 |
| N2B | 6420 | 19483;19484;19485 | chr2:178619864;178619863;178619862 | chr2:179484591;179484590;179484589 |
| Novex-1 | 6545 | 19858;19859;19860 | chr2:178619864;178619863;178619862 | chr2:179484591;179484590;179484589 |
| Novex-2 | 6612 | 20059;20060;20061 | chr2:178619864;178619863;178619862 | chr2:179484591;179484590;179484589 |
| 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 | rs1334870025  |
None | 1.0 | N | 0.772 | 0.42 | 0.476598743245 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1334870025 |
None | 1.0 | N | 0.772 | 0.42 | 0.476598743245 | gnomAD-4.0.0 | 6.58016E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9478E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.822 | 0.441 | 0.754529581264 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/T | rs1334870025 |
-0.898 | 1.0 | D | 0.839 | 0.453 | 0.528860544761 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| P/T | rs1334870025 |
-0.898 | 1.0 | D | 0.839 | 0.453 | 0.528860544761 | gnomAD-4.0.0 | 6.16823E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20194E-06 | 0 | 1.65997E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1506 | likely_benign | 0.1229 | benign | -1.184 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.508453055 | None | None | N |
| P/C | 0.7838 | likely_pathogenic | 0.765 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/D | 0.8253 | likely_pathogenic | 0.8031 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/E | 0.4796 | ambiguous | 0.4335 | ambiguous | -1.066 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/F | 0.7935 | likely_pathogenic | 0.7519 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/G | 0.6202 | likely_pathogenic | 0.5736 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/H | 0.4298 | ambiguous | 0.4014 | ambiguous | -1.119 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.513906755 | None | None | N |
| P/I | 0.5734 | likely_pathogenic | 0.514 | ambiguous | -0.519 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/K | 0.4398 | ambiguous | 0.4262 | ambiguous | -1.097 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/L | 0.247 | likely_benign | 0.2026 | benign | -0.519 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.534528706 | None | None | N |
| P/M | 0.5298 | ambiguous | 0.4694 | ambiguous | -0.415 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/N | 0.6847 | likely_pathogenic | 0.6588 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| P/Q | 0.2665 | likely_benign | 0.2332 | benign | -1.006 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/R | 0.3591 | ambiguous | 0.328 | benign | -0.607 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.511646681 | None | None | N |
| P/S | 0.2854 | likely_benign | 0.2455 | benign | -1.277 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.511224395 | None | None | N |
| P/T | 0.2866 | likely_benign | 0.2378 | benign | -1.198 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.534028764 | None | None | N |
| P/V | 0.4287 | ambiguous | 0.3708 | ambiguous | -0.705 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/W | 0.921 | likely_pathogenic | 0.8986 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/Y | 0.7447 | likely_pathogenic | 0.7192 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.756 | deleterious | 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.