Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19588 | 58987;58988;58989 | chr2:178593446;178593445;178593444 | chr2:179458173;179458172;179458171 |
| N2AB | 17947 | 54064;54065;54066 | chr2:178593446;178593445;178593444 | chr2:179458173;179458172;179458171 |
| N2A | 17020 | 51283;51284;51285 | chr2:178593446;178593445;178593444 | chr2:179458173;179458172;179458171 |
| N2B | 10523 | 31792;31793;31794 | chr2:178593446;178593445;178593444 | chr2:179458173;179458172;179458171 |
| Novex-1 | 10648 | 32167;32168;32169 | chr2:178593446;178593445;178593444 | chr2:179458173;179458172;179458171 |
| Novex-2 | 10715 | 32368;32369;32370 | chr2:178593446;178593445;178593444 | chr2:179458173;179458172;179458171 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs762211011  |
-2.024 | 0.971 | N | 0.847 | 0.51 | 0.78620880623 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| V/G | rs762211011 |
-2.024 | 0.971 | N | 0.847 | 0.51 | 0.78620880623 | gnomAD-4.0.0 | 1.59383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44096E-05 | 0 |
| V/I | rs2050676034 |
None | 0.014 | N | 0.221 | 0.109 | 0.348764635752 | 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 |
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 | 0.5161 | ambiguous | 0.5698 | pathogenic | -1.538 | Destabilizing | 0.822 | D | 0.514 | neutral | N | 0.492719139 | None | None | N |
| V/C | 0.854 | likely_pathogenic | 0.8936 | pathogenic | -1.193 | Destabilizing | 0.998 | D | 0.772 | deleterious | None | None | None | None | N |
| V/D | 0.976 | likely_pathogenic | 0.9858 | pathogenic | -1.183 | Destabilizing | 0.99 | D | 0.867 | deleterious | N | 0.514118797 | None | None | N |
| V/E | 0.9416 | likely_pathogenic | 0.9671 | pathogenic | -1.079 | Destabilizing | 0.993 | D | 0.852 | deleterious | None | None | None | None | N |
| V/F | 0.6886 | likely_pathogenic | 0.7176 | pathogenic | -0.983 | Destabilizing | 0.942 | D | 0.819 | deleterious | N | 0.471448144 | None | None | N |
| V/G | 0.8045 | likely_pathogenic | 0.857 | pathogenic | -1.969 | Destabilizing | 0.971 | D | 0.847 | deleterious | N | 0.513104839 | None | None | N |
| V/H | 0.9821 | likely_pathogenic | 0.9882 | pathogenic | -1.652 | Destabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.0843 | likely_benign | 0.0794 | benign | -0.411 | Destabilizing | 0.014 | N | 0.221 | neutral | N | 0.461860302 | None | None | N |
| V/K | 0.9644 | likely_pathogenic | 0.9775 | pathogenic | -1.155 | Destabilizing | 0.978 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.5348 | ambiguous | 0.5674 | pathogenic | -0.411 | Destabilizing | 0.247 | N | 0.417 | neutral | N | 0.502976206 | None | None | N |
| V/M | 0.545 | ambiguous | 0.561 | ambiguous | -0.465 | Destabilizing | 0.956 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/N | 0.9301 | likely_pathogenic | 0.9531 | pathogenic | -1.127 | Destabilizing | 0.993 | D | 0.877 | deleterious | None | None | None | None | N |
| V/P | 0.7752 | likely_pathogenic | 0.8204 | pathogenic | -0.753 | Destabilizing | 0.993 | D | 0.864 | deleterious | None | None | None | None | N |
| V/Q | 0.9462 | likely_pathogenic | 0.9655 | pathogenic | -1.11 | Destabilizing | 0.993 | D | 0.866 | deleterious | None | None | None | None | N |
| V/R | 0.9458 | likely_pathogenic | 0.9651 | pathogenic | -0.942 | Destabilizing | 0.993 | D | 0.875 | deleterious | None | None | None | None | N |
| V/S | 0.7885 | likely_pathogenic | 0.8299 | pathogenic | -1.802 | Destabilizing | 0.978 | D | 0.835 | deleterious | None | None | None | None | N |
| V/T | 0.6395 | likely_pathogenic | 0.6834 | pathogenic | -1.56 | Destabilizing | 0.86 | D | 0.636 | neutral | None | None | None | None | N |
| V/W | 0.9879 | likely_pathogenic | 0.9903 | pathogenic | -1.296 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Y | 0.9503 | likely_pathogenic | 0.9627 | pathogenic | -0.925 | Destabilizing | 0.978 | D | 0.823 | 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.