Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35503 | 106732;106733;106734 | chr2:178529984;178529983;178529982 | chr2:179394711;179394710;179394709 |
| N2AB | 33862 | 101809;101810;101811 | chr2:178529984;178529983;178529982 | chr2:179394711;179394710;179394709 |
| N2A | 32935 | 99028;99029;99030 | chr2:178529984;178529983;178529982 | chr2:179394711;179394710;179394709 |
| N2B | 26438 | 79537;79538;79539 | chr2:178529984;178529983;178529982 | chr2:179394711;179394710;179394709 |
| Novex-1 | 26563 | 79912;79913;79914 | chr2:178529984;178529983;178529982 | chr2:179394711;179394710;179394709 |
| Novex-2 | 26630 | 80113;80114;80115 | chr2:178529984;178529983;178529982 | chr2:179394711;179394710;179394709 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1688342681  |
None | 0.857 | D | 0.681 | 0.303 | 0.557050979708 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1688342681 |
None | 0.857 | D | 0.681 | 0.303 | 0.557050979708 | gnomAD-4.0.0 | 6.51274E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.21844E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1109 | likely_benign | 0.1145 | benign | -0.89 | Destabilizing | 0.071 | N | 0.335 | neutral | N | 0.424985143 | None | None | N |
| S/C | 0.2272 | likely_benign | 0.2254 | benign | -0.499 | Destabilizing | 0.003 | N | 0.408 | neutral | N | 0.493655794 | None | None | N |
| S/D | 0.7872 | likely_pathogenic | 0.7529 | pathogenic | 0.302 | Stabilizing | 0.694 | D | 0.569 | neutral | None | None | None | None | N |
| S/E | 0.8611 | likely_pathogenic | 0.8347 | pathogenic | 0.267 | Stabilizing | 0.694 | D | 0.574 | neutral | None | None | None | None | N |
| S/F | 0.449 | ambiguous | 0.4503 | ambiguous | -1.306 | Destabilizing | 0.857 | D | 0.681 | prob.neutral | D | 0.536369208 | None | None | N |
| S/G | 0.1725 | likely_benign | 0.1737 | benign | -1.074 | Destabilizing | 0.484 | N | 0.523 | neutral | None | None | None | None | N |
| S/H | 0.7334 | likely_pathogenic | 0.6995 | pathogenic | -1.532 | Destabilizing | 0.96 | D | 0.625 | neutral | None | None | None | None | N |
| S/I | 0.3678 | ambiguous | 0.3598 | ambiguous | -0.511 | Destabilizing | 0.528 | D | 0.669 | neutral | None | None | None | None | N |
| S/K | 0.9479 | likely_pathogenic | 0.9346 | pathogenic | -0.44 | Destabilizing | 0.528 | D | 0.566 | neutral | None | None | None | None | N |
| S/L | 0.2229 | likely_benign | 0.2179 | benign | -0.511 | Destabilizing | 0.188 | N | 0.596 | neutral | None | None | None | None | N |
| S/M | 0.451 | ambiguous | 0.4456 | ambiguous | -0.142 | Destabilizing | 0.96 | D | 0.628 | neutral | None | None | None | None | N |
| S/N | 0.4047 | ambiguous | 0.3764 | ambiguous | -0.284 | Destabilizing | 0.694 | D | 0.592 | neutral | None | None | None | None | N |
| S/P | 0.9322 | likely_pathogenic | 0.9263 | pathogenic | -0.608 | Destabilizing | 0.839 | D | 0.642 | neutral | N | 0.518195218 | None | None | N |
| S/Q | 0.8419 | likely_pathogenic | 0.8171 | pathogenic | -0.495 | Destabilizing | 0.96 | D | 0.601 | neutral | None | None | None | None | N |
| S/R | 0.9034 | likely_pathogenic | 0.882 | pathogenic | -0.337 | Destabilizing | 0.888 | D | 0.63 | neutral | None | None | None | None | N |
| S/T | 0.0973 | likely_benign | 0.0993 | benign | -0.448 | Destabilizing | 0.002 | N | 0.191 | neutral | N | 0.440264026 | None | None | N |
| S/V | 0.3164 | likely_benign | 0.3172 | benign | -0.608 | Destabilizing | 0.316 | N | 0.602 | neutral | None | None | None | None | N |
| S/W | 0.7144 | likely_pathogenic | 0.689 | pathogenic | -1.193 | Destabilizing | 0.989 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/Y | 0.4231 | ambiguous | 0.4032 | ambiguous | -0.944 | Destabilizing | 0.948 | D | 0.672 | neutral | N | 0.491697172 | 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.