Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18992 | 57199;57200;57201 | chr2:178598643;178598642;178598641 | chr2:179463370;179463369;179463368 |
| N2AB | 17351 | 52276;52277;52278 | chr2:178598643;178598642;178598641 | chr2:179463370;179463369;179463368 |
| N2A | 16424 | 49495;49496;49497 | chr2:178598643;178598642;178598641 | chr2:179463370;179463369;179463368 |
| N2B | 9927 | 30004;30005;30006 | chr2:178598643;178598642;178598641 | chr2:179463370;179463369;179463368 |
| Novex-1 | 10052 | 30379;30380;30381 | chr2:178598643;178598642;178598641 | chr2:179463370;179463369;179463368 |
| Novex-2 | 10119 | 30580;30581;30582 | chr2:178598643;178598642;178598641 | chr2:179463370;179463369;179463368 |
| 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/L | None | None | 0.999 | D | 0.928 | 0.64 | None | gnomAD-4.0.0 | 1.62039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88211E-06 | 0 | 0 |
| P/S | rs878938953  |
None | 0.999 | D | 0.903 | 0.609 | 0.599122672276 | gnomAD-4.0.0 | 2.75713E-06 | None | None | None | None | N | None | 3.07484E-05 | 0 | None | 0 | 5.07357E-05 | None | 0 | 0 | 0 | 0 | 1.66934E-05 |
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 | 0.1021 | likely_benign | 0.1156 | benign | -1.633 | Destabilizing | 0.996 | D | 0.855 | deleterious | D | 0.557073107 | None | None | N |
| P/C | 0.5383 | ambiguous | 0.5608 | ambiguous | -1.059 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/D | 0.8184 | likely_pathogenic | 0.8338 | pathogenic | -1.523 | Destabilizing | 0.994 | D | 0.88 | deleterious | None | None | None | None | N |
| P/E | 0.5141 | ambiguous | 0.579 | pathogenic | -1.478 | Destabilizing | 0.91 | D | 0.741 | deleterious | None | None | None | None | N |
| P/F | 0.6554 | likely_pathogenic | 0.6805 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| P/G | 0.5574 | ambiguous | 0.581 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/H | 0.3999 | ambiguous | 0.3804 | ambiguous | -1.538 | Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.608726341 | None | None | N |
| P/I | 0.4257 | ambiguous | 0.4599 | ambiguous | -0.688 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| P/K | 0.4508 | ambiguous | 0.4443 | ambiguous | -1.261 | Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| P/L | 0.2318 | likely_benign | 0.2429 | benign | -0.688 | Destabilizing | 0.999 | D | 0.928 | deleterious | D | 0.598803982 | None | None | N |
| P/M | 0.4206 | ambiguous | 0.4472 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/N | 0.6065 | likely_pathogenic | 0.6316 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| P/Q | 0.2729 | likely_benign | 0.2914 | benign | -1.224 | Destabilizing | 0.999 | D | 0.911 | deleterious | None | None | None | None | N |
| P/R | 0.3518 | ambiguous | 0.3334 | benign | -0.801 | Destabilizing | 0.999 | D | 0.936 | deleterious | D | 0.56325243 | None | None | N |
| P/S | 0.2173 | likely_benign | 0.2322 | benign | -1.674 | Destabilizing | 0.999 | D | 0.903 | deleterious | D | 0.557246509 | None | None | N |
| P/T | 0.2082 | likely_benign | 0.2287 | benign | -1.516 | Destabilizing | 0.999 | D | 0.901 | deleterious | D | 0.592505176 | None | None | N |
| P/V | 0.3047 | likely_benign | 0.3355 | benign | -0.97 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| P/W | 0.8632 | likely_pathogenic | 0.8767 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Y | 0.6671 | likely_pathogenic | 0.6748 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.946 | 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.