Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9935 | 30028;30029;30030 | chr2:178704669;178704668;178704667 | chr2:179569396;179569395;179569394 |
| N2AB | 9618 | 29077;29078;29079 | chr2:178704669;178704668;178704667 | chr2:179569396;179569395;179569394 |
| N2A | 8691 | 26296;26297;26298 | chr2:178704669;178704668;178704667 | chr2:179569396;179569395;179569394 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1428709009  |
-1.052 | 1.0 | None | 0.783 | 0.555 | 0.530803083455 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs1428709009 |
-1.052 | 1.0 | None | 0.783 | 0.555 | 0.530803083455 | gnomAD-4.0.0 | 2.05495E-06 | None | None | None | None | N | None | 0 | 2.24729E-05 | None | 0 | 0 | None | 0 | 0 | 1.80031E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.992 | likely_pathogenic | 0.9952 | pathogenic | -2.875 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| Y/C | 0.9311 | likely_pathogenic | 0.9657 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/D | 0.9925 | likely_pathogenic | 0.9954 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| Y/E | 0.9956 | likely_pathogenic | 0.9975 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| Y/F | 0.3307 | likely_benign | 0.3505 | ambiguous | -1.266 | Destabilizing | 0.999 | D | 0.542 | neutral | None | None | None | None | N |
| Y/G | 0.9776 | likely_pathogenic | 0.9866 | pathogenic | -3.198 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| Y/H | 0.9431 | likely_pathogenic | 0.9676 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| Y/I | 0.9711 | likely_pathogenic | 0.9759 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| Y/K | 0.9888 | likely_pathogenic | 0.9939 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| Y/L | 0.8971 | likely_pathogenic | 0.9146 | pathogenic | -1.855 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| Y/M | 0.9696 | likely_pathogenic | 0.978 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| Y/N | 0.9487 | likely_pathogenic | 0.9674 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| Y/P | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/Q | 0.9908 | likely_pathogenic | 0.9953 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/R | 0.9738 | likely_pathogenic | 0.9848 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| Y/S | 0.9696 | likely_pathogenic | 0.9823 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| Y/T | 0.9882 | likely_pathogenic | 0.9934 | pathogenic | -2.201 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| Y/V | 0.9451 | likely_pathogenic | 0.9578 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| Y/W | 0.8543 | likely_pathogenic | 0.888 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.723 | 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.