Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20638 | 62137;62138;62139 | chr2:178589813;178589812;178589811 | chr2:179454540;179454539;179454538 |
| N2AB | 18997 | 57214;57215;57216 | chr2:178589813;178589812;178589811 | chr2:179454540;179454539;179454538 |
| N2A | 18070 | 54433;54434;54435 | chr2:178589813;178589812;178589811 | chr2:179454540;179454539;179454538 |
| N2B | 11573 | 34942;34943;34944 | chr2:178589813;178589812;178589811 | chr2:179454540;179454539;179454538 |
| Novex-1 | 11698 | 35317;35318;35319 | chr2:178589813;178589812;178589811 | chr2:179454540;179454539;179454538 |
| Novex-2 | 11765 | 35518;35519;35520 | chr2:178589813;178589812;178589811 | chr2:179454540;179454539;179454538 |
| 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 | rs777982609  |
-2.76 | 1.0 | D | 0.819 | 0.853 | 0.848987517289 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs777982609 |
-2.76 | 1.0 | D | 0.819 | 0.853 | 0.848987517289 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77577E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -3.335 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/C | 0.9635 | likely_pathogenic | 0.9511 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.670614248 | None | None | N |
| Y/D | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -3.744 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.670614248 | None | None | N |
| Y/E | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.544 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/F | 0.3535 | ambiguous | 0.3096 | benign | -1.485 | Destabilizing | 0.999 | D | 0.744 | deleterious | D | 0.620507762 | None | None | N |
| Y/G | 0.9884 | likely_pathogenic | 0.9878 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/H | 0.9861 | likely_pathogenic | 0.982 | pathogenic | -2.481 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.670614248 | None | None | N |
| Y/I | 0.9737 | likely_pathogenic | 0.97 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/K | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/L | 0.9628 | likely_pathogenic | 0.9587 | pathogenic | -2.084 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/M | 0.9875 | likely_pathogenic | 0.9851 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/N | 0.9678 | likely_pathogenic | 0.9675 | pathogenic | -3.192 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.670412444 | None | None | N |
| Y/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| Y/Q | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/R | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/S | 0.9902 | likely_pathogenic | 0.9888 | pathogenic | -3.424 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.670614248 | None | None | N |
| Y/T | 0.995 | likely_pathogenic | 0.9938 | pathogenic | -3.12 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/V | 0.9575 | likely_pathogenic | 0.9507 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/W | 0.9188 | likely_pathogenic | 0.9099 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.805 | 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.