Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
| N2AB | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
| N2A | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
| N2B | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
| Novex-1 | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
| Novex-2 | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
| Novex-3 | 37 | 334;335;336 | chr2:178802324;178802323;178802322 | chr2:179667051;179667050;179667049 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | None | None | 1.0 | D | 0.875 | 0.922 | 0.942146901664 | gnomAD-4.0.0 | 1.08131E-05 | None | None | None | -0.586(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.051E-05 | 0 | 3.66623E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7815 | likely_pathogenic | 0.7011 | pathogenic | -1.572 | Destabilizing | 0.999 | D | 0.663 | neutral | D | 0.730604611 | None | -0.616(TCAP) | N |
| V/C | 0.9919 | likely_pathogenic | 0.9843 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -0.028(TCAP) | N |
| V/D | 0.9897 | likely_pathogenic | 0.9822 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | 0.115(TCAP) | N |
| V/E | 0.973 | likely_pathogenic | 0.9589 | pathogenic | -1.185 | Destabilizing | 0.999 | D | 0.875 | deleterious | D | 0.829364869 | None | 0.057(TCAP) | N |
| V/F | 0.8113 | likely_pathogenic | 0.737 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -0.252(TCAP) | N |
| V/G | 0.8553 | likely_pathogenic | 0.7972 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.829364869 | None | -0.586(TCAP) | N |
| V/H | 0.9958 | likely_pathogenic | 0.9923 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | 0.502(TCAP) | N |
| V/I | 0.13 | likely_benign | 0.1177 | benign | -0.363 | Destabilizing | 0.99 | D | 0.623 | neutral | None | None | None | -0.7(TCAP) | N |
| V/K | 0.9833 | likely_pathogenic | 0.9724 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | -0.195(TCAP) | N |
| V/L | 0.7255 | likely_pathogenic | 0.6377 | pathogenic | -0.363 | Destabilizing | 0.987 | D | 0.679 | prob.neutral | D | 0.599683981 | None | -0.7(TCAP) | N |
| V/M | 0.7012 | likely_pathogenic | 0.6107 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.738345304 | None | -0.34(TCAP) | N |
| V/N | 0.9733 | likely_pathogenic | 0.9555 | pathogenic | -1.233 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | -0.42(TCAP) | N |
| V/P | 0.9762 | likely_pathogenic | 0.9589 | pathogenic | -0.734 | Destabilizing | 0.999 | D | 0.864 | deleterious | None | None | None | -0.673(TCAP) | N |
| V/Q | 0.9805 | likely_pathogenic | 0.9705 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | -0.312(TCAP) | N |
| V/R | 0.979 | likely_pathogenic | 0.9662 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | -0.261(TCAP) | N |
| V/S | 0.9364 | likely_pathogenic | 0.9012 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | -0.18(TCAP) | N |
| V/T | 0.8019 | likely_pathogenic | 0.7266 | pathogenic | -1.594 | Destabilizing | 0.998 | D | 0.686 | prob.neutral | None | None | None | -0.24(TCAP) | N |
| V/W | 0.9969 | likely_pathogenic | 0.9941 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -0.235(TCAP) | N |
| V/Y | 0.9794 | likely_pathogenic | 0.9674 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | -0.286(TCAP) | 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.