Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16621 | 50086;50087;50088 | chr2:178612860;178612859;178612858 | chr2:179477587;179477586;179477585 |
| N2AB | 14980 | 45163;45164;45165 | chr2:178612860;178612859;178612858 | chr2:179477587;179477586;179477585 |
| N2A | 14053 | 42382;42383;42384 | chr2:178612860;178612859;178612858 | chr2:179477587;179477586;179477585 |
| N2B | 7556 | 22891;22892;22893 | chr2:178612860;178612859;178612858 | chr2:179477587;179477586;179477585 |
| Novex-1 | 7681 | 23266;23267;23268 | chr2:178612860;178612859;178612858 | chr2:179477587;179477586;179477585 |
| Novex-2 | 7748 | 23467;23468;23469 | chr2:178612860;178612859;178612858 | chr2:179477587;179477586;179477585 |
| 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/H | rs766377448  |
-2.437 | 1.0 | D | 0.847 | 0.894 | 0.787062357515 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| Y/H | rs766377448 |
-2.437 | 1.0 | D | 0.847 | 0.894 | 0.787062357515 | gnomAD-4.0.0 | 3.18769E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86697E-05 | 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 | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -3.176 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| Y/C | 0.9753 | likely_pathogenic | 0.9792 | pathogenic | -1.964 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.757615924 | None | None | N |
| Y/D | 0.9965 | likely_pathogenic | 0.9976 | pathogenic | -3.433 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.789721101 | None | None | N |
| Y/E | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/F | 0.4155 | ambiguous | 0.3838 | ambiguous | -1.164 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.616912664 | None | None | N |
| Y/G | 0.9881 | likely_pathogenic | 0.9908 | pathogenic | -3.574 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/H | 0.9893 | likely_pathogenic | 0.9908 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.738315106 | None | None | N |
| Y/I | 0.9795 | likely_pathogenic | 0.9814 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/K | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/L | 0.9616 | likely_pathogenic | 0.9653 | pathogenic | -1.864 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/M | 0.9881 | likely_pathogenic | 0.9901 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/N | 0.9784 | likely_pathogenic | 0.9833 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.738576911 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.733 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/R | 0.9976 | likely_pathogenic | 0.9983 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/S | 0.9932 | likely_pathogenic | 0.9947 | pathogenic | -3.271 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.789721101 | None | None | N |
| Y/T | 0.9968 | likely_pathogenic | 0.9975 | pathogenic | -2.986 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/V | 0.9632 | likely_pathogenic | 0.9656 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/W | 0.9084 | likely_pathogenic | 0.9153 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.827 | 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.