Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15484 | 46675;46676;46677 | chr2:178619867;178619866;178619865 | chr2:179484594;179484593;179484592 |
| N2AB | 13843 | 41752;41753;41754 | chr2:178619867;178619866;178619865 | chr2:179484594;179484593;179484592 |
| N2A | 12916 | 38971;38972;38973 | chr2:178619867;178619866;178619865 | chr2:179484594;179484593;179484592 |
| N2B | 6419 | 19480;19481;19482 | chr2:178619867;178619866;178619865 | chr2:179484594;179484593;179484592 |
| Novex-1 | 6544 | 19855;19856;19857 | chr2:178619867;178619866;178619865 | chr2:179484594;179484593;179484592 |
| Novex-2 | 6611 | 20056;20057;20058 | chr2:178619867;178619866;178619865 | chr2:179484594;179484593;179484592 |
| 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/K | rs72677229  |
-0.21 | 0.997 | N | 0.521 | 0.34 | None | gnomAD-2.1.1 | 1.91319E-04 | None | None | None | None | N | None | 0 | 5.74E-05 | None | 0 | 0 | None | 0 | None | 1.20443E-04 | 3.78997E-04 | 0 |
| R/K | rs72677229 |
-0.21 | 0.997 | N | 0.521 | 0.34 | None | gnomAD-3.1.2 | 2.30597E-04 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.7142E-04 | 0 | 0 |
| R/K | rs72677229 |
-0.21 | 0.997 | N | 0.521 | 0.34 | None | gnomAD-4.0.0 | 2.99292E-04 | None | None | None | None | N | None | 8.03772E-05 | 0 | None | 0 | 2.23864E-05 | None | 4.69763E-05 | 0 | 3.91147E-04 | 0 | 1.76542E-04 |
| R/M | rs72677229 |
-0.133 | 1.0 | N | 0.76 | 0.481 | 0.463586170655 | gnomAD-2.1.1 | 8.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| R/M | rs72677229 |
-0.133 | 1.0 | N | 0.76 | 0.481 | 0.463586170655 | gnomAD-4.0.0 | 3.42774E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.21921E-04 | 1.80066E-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 | 0.7608 | likely_pathogenic | 0.7752 | pathogenic | -0.067 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| R/C | 0.3503 | ambiguous | 0.3842 | ambiguous | -0.157 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/D | 0.9109 | likely_pathogenic | 0.9217 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| R/E | 0.6739 | likely_pathogenic | 0.6969 | pathogenic | 0.086 | Stabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| R/F | 0.8412 | likely_pathogenic | 0.8636 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/G | 0.7163 | likely_pathogenic | 0.7098 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.503269875 | None | None | N |
| R/H | 0.1745 | likely_benign | 0.1869 | benign | -0.79 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/I | 0.5869 | likely_pathogenic | 0.6177 | pathogenic | 0.59 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/K | 0.1963 | likely_benign | 0.1996 | benign | -0.151 | Destabilizing | 0.997 | D | 0.521 | neutral | N | 0.47577898 | None | None | N |
| R/L | 0.4865 | ambiguous | 0.5197 | ambiguous | 0.59 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/M | 0.6675 | likely_pathogenic | 0.6911 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.76 | deleterious | N | 0.514256809 | None | None | N |
| R/N | 0.7827 | likely_pathogenic | 0.7942 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/P | 0.9815 | likely_pathogenic | 0.9828 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| R/Q | 0.1785 | likely_benign | 0.1837 | benign | 0.065 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| R/S | 0.7623 | likely_pathogenic | 0.7641 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.494789785 | None | None | N |
| R/T | 0.5681 | likely_pathogenic | 0.5808 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.499812069 | None | None | N |
| R/V | 0.665 | likely_pathogenic | 0.6983 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/W | 0.4962 | ambiguous | 0.5218 | ambiguous | -0.017 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.510474712 | None | None | N |
| R/Y | 0.7001 | likely_pathogenic | 0.7265 | pathogenic | 0.355 | Stabilizing | 1.0 | D | 0.765 | 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.