Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5329 | 16210;16211;16212 | chr2:178733308;178733307;178733306 | chr2:179598035;179598034;179598033 |
| N2AB | 5012 | 15259;15260;15261 | chr2:178733308;178733307;178733306 | chr2:179598035;179598034;179598033 |
| N2A | 4085 | 12478;12479;12480 | chr2:178733308;178733307;178733306 | chr2:179598035;179598034;179598033 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs1370617731  |
-0.821 | 1.0 | D | 0.821 | 0.691 | 0.88548190272 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79907E-06 | 0 | 0 |
| G/D | rs202234492 |
-0.552 | 0.989 | D | 0.77 | 0.667 | None | gnomAD-2.1.1 | 3.97294E-04 | None | None | None | None | I | None | 1.24008E-04 | 0 | None | 0 | 0 | None | 4.91256E-04 | None | 4.01E-05 | 7.13893E-04 | 1.40687E-04 |
| G/D | rs202234492 |
-0.552 | 0.989 | D | 0.77 | 0.667 | None | gnomAD-3.1.2 | 3.02254E-04 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 6.46697E-04 | 0 | 0 |
| G/D | rs202234492 |
-0.552 | 0.989 | D | 0.77 | 0.667 | None | gnomAD-4.0.0 | 3.77446E-04 | None | None | None | None | I | None | 8.00811E-05 | 0 | None | 0 | 0 | None | 7.81299E-05 | 0 | 4.67081E-04 | 3.84556E-04 | 1.92141E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4515 | ambiguous | 0.4608 | ambiguous | -0.708 | Destabilizing | 0.122 | N | 0.439 | neutral | D | 0.572380085 | None | None | I |
| G/C | 0.8072 | likely_pathogenic | 0.781 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.657391632 | None | None | I |
| G/D | 0.8792 | likely_pathogenic | 0.8843 | pathogenic | -0.847 | Destabilizing | 0.989 | D | 0.77 | deleterious | D | 0.640736497 | None | None | I |
| G/E | 0.9316 | likely_pathogenic | 0.9247 | pathogenic | -0.902 | Destabilizing | 0.991 | D | 0.799 | deleterious | None | None | None | None | I |
| G/F | 0.9801 | likely_pathogenic | 0.9778 | pathogenic | -1.097 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | I |
| G/H | 0.9656 | likely_pathogenic | 0.9638 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/I | 0.9738 | likely_pathogenic | 0.9661 | pathogenic | -0.318 | Destabilizing | 0.996 | D | 0.824 | deleterious | None | None | None | None | I |
| G/K | 0.9702 | likely_pathogenic | 0.9656 | pathogenic | -1.035 | Destabilizing | 0.991 | D | 0.794 | deleterious | None | None | None | None | I |
| G/L | 0.9625 | likely_pathogenic | 0.9593 | pathogenic | -0.318 | Destabilizing | 0.991 | D | 0.823 | deleterious | None | None | None | None | I |
| G/M | 0.9736 | likely_pathogenic | 0.9717 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/N | 0.9199 | likely_pathogenic | 0.921 | pathogenic | -0.733 | Destabilizing | 0.991 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -0.407 | Destabilizing | 0.996 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9181 | likely_pathogenic | 0.9142 | pathogenic | -0.898 | Destabilizing | 0.996 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.9059 | likely_pathogenic | 0.8988 | pathogenic | -0.783 | Destabilizing | 0.994 | D | 0.807 | deleterious | D | 0.657189827 | None | None | I |
| G/S | 0.3967 | ambiguous | 0.39 | ambiguous | -1.062 | Destabilizing | 0.489 | N | 0.447 | neutral | D | 0.640534693 | None | None | I |
| G/T | 0.871 | likely_pathogenic | 0.8544 | pathogenic | -1.023 | Destabilizing | 0.942 | D | 0.778 | deleterious | None | None | None | None | I |
| G/V | 0.9345 | likely_pathogenic | 0.9173 | pathogenic | -0.407 | Destabilizing | 0.989 | D | 0.824 | deleterious | D | 0.657391632 | None | None | I |
| G/W | 0.9725 | likely_pathogenic | 0.9697 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/Y | 0.9763 | likely_pathogenic | 0.9747 | pathogenic | -0.992 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | I |
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.