Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28457 | 85594;85595;85596 | chr2:178560763;178560762;178560761 | chr2:179425490;179425489;179425488 |
| N2AB | 26816 | 80671;80672;80673 | chr2:178560763;178560762;178560761 | chr2:179425490;179425489;179425488 |
| N2A | 25889 | 77890;77891;77892 | chr2:178560763;178560762;178560761 | chr2:179425490;179425489;179425488 |
| N2B | 19392 | 58399;58400;58401 | chr2:178560763;178560762;178560761 | chr2:179425490;179425489;179425488 |
| Novex-1 | 19517 | 58774;58775;58776 | chr2:178560763;178560762;178560761 | chr2:179425490;179425489;179425488 |
| Novex-2 | 19584 | 58975;58976;58977 | chr2:178560763;178560762;178560761 | chr2:179425490;179425489;179425488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs947719918  |
None | 1.0 | N | 0.77 | 0.458 | 0.434160288164 | gnomAD-4.0.0 | 6.84245E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.812 | 0.415 | 0.420570264827 | gnomAD-4.0.0 | 6.84245E-07 | None | None | None | None | N | None | 2.98793E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2053 | likely_benign | 0.1772 | benign | -0.397 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.506856506 | None | None | N |
| P/C | 0.6321 | likely_pathogenic | 0.5904 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/D | 0.6192 | likely_pathogenic | 0.5695 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/E | 0.4775 | ambiguous | 0.417 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/F | 0.6133 | likely_pathogenic | 0.56 | ambiguous | -0.613 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/G | 0.5541 | ambiguous | 0.4987 | ambiguous | -0.503 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/H | 0.3227 | likely_benign | 0.285 | benign | 0.01 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/I | 0.427 | ambiguous | 0.3907 | ambiguous | -0.263 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/K | 0.3913 | ambiguous | 0.3542 | ambiguous | -0.419 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/L | 0.1957 | likely_benign | 0.1765 | benign | -0.263 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.501026247 | None | None | N |
| P/M | 0.4705 | ambiguous | 0.4221 | ambiguous | -0.52 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/N | 0.5086 | ambiguous | 0.4567 | ambiguous | -0.239 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Q | 0.3023 | likely_benign | 0.257 | benign | -0.441 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.512643404 | None | None | N |
| P/R | 0.283 | likely_benign | 0.2516 | benign | 0.061 | Stabilizing | 1.0 | D | 0.819 | deleterious | N | 0.51897328 | None | None | N |
| P/S | 0.2963 | likely_benign | 0.2529 | benign | -0.595 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.496994684 | None | None | N |
| P/T | 0.2153 | likely_benign | 0.1911 | benign | -0.598 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.505388475 | None | None | N |
| P/V | 0.329 | likely_benign | 0.2945 | benign | -0.276 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/W | 0.795 | likely_pathogenic | 0.756 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/Y | 0.5612 | ambiguous | 0.5141 | ambiguous | -0.396 | Destabilizing | 1.0 | D | 0.795 | 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.