Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
| N2AB | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
| N2A | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
| N2B | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
| Novex-1 | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
| Novex-2 | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
| Novex-3 | 77 | 454;455;456 | chr2:178802204;178802203;178802202 | chr2:179666931;179666930;179666929 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs727503709  |
0.097 | 0.991 | N | 0.665 | 0.263 | 0.232513804876 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | -0.385(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| R/Q | rs727503709 |
0.097 | 0.991 | N | 0.665 | 0.263 | 0.232513804876 | gnomAD-4.0.0 | 4.10435E-06 | None | None | None | -0.385(TCAP) | N | None | 2.98686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69788E-06 | 2.31868E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4745 | ambiguous | 0.4387 | ambiguous | -0.762 | Destabilizing | 0.91 | D | 0.635 | neutral | None | None | None | -0.59(TCAP) | N |
| R/C | 0.327 | likely_benign | 0.3031 | benign | -0.718 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | -0.44(TCAP) | N |
| R/D | 0.7771 | likely_pathogenic | 0.7434 | pathogenic | -0.174 | Destabilizing | 0.973 | D | 0.71 | prob.delet. | None | None | None | -0.212(TCAP) | N |
| R/E | 0.4483 | ambiguous | 0.4274 | ambiguous | -0.106 | Destabilizing | 0.604 | D | 0.599 | neutral | None | None | None | -0.275(TCAP) | N |
| R/F | 0.5964 | likely_pathogenic | 0.5571 | ambiguous | -0.95 | Destabilizing | 0.989 | D | 0.755 | deleterious | None | None | None | -0.628(TCAP) | N |
| R/G | 0.3884 | ambiguous | 0.3448 | ambiguous | -0.991 | Destabilizing | 0.951 | D | 0.661 | neutral | N | 0.511520137 | None | -0.502(TCAP) | N |
| R/H | 0.0989 | likely_benign | 0.0941 | benign | -1.261 | Destabilizing | 0.989 | D | 0.664 | neutral | None | None | None | -0.284(TCAP) | N |
| R/I | 0.2303 | likely_benign | 0.2164 | benign | -0.172 | Destabilizing | 0.968 | D | 0.761 | deleterious | None | None | None | -0.853(TCAP) | N |
| R/K | 0.1451 | likely_benign | 0.136 | benign | -0.755 | Destabilizing | 0.002 | N | 0.246 | neutral | None | None | None | -0.267(TCAP) | N |
| R/L | 0.232 | likely_benign | 0.2194 | benign | -0.172 | Destabilizing | 0.89 | D | 0.661 | neutral | N | 0.425351105 | None | -0.853(TCAP) | N |
| R/M | 0.3702 | ambiguous | 0.3309 | benign | -0.284 | Destabilizing | 0.997 | D | 0.722 | prob.delet. | None | None | None | -0.335(TCAP) | N |
| R/N | 0.5865 | likely_pathogenic | 0.5423 | ambiguous | -0.172 | Destabilizing | 0.973 | D | 0.646 | neutral | None | None | None | -0.311(TCAP) | N |
| R/P | 0.721 | likely_pathogenic | 0.6705 | pathogenic | -0.349 | Destabilizing | 0.993 | D | 0.754 | deleterious | N | 0.509838353 | None | -0.767(TCAP) | N |
| R/Q | 0.1135 | likely_benign | 0.1078 | benign | -0.486 | Destabilizing | 0.991 | D | 0.665 | neutral | N | 0.433174037 | None | -0.385(TCAP) | N |
| R/S | 0.4733 | ambiguous | 0.4483 | ambiguous | -0.91 | Destabilizing | 0.91 | D | 0.67 | neutral | None | None | None | -0.128(TCAP) | N |
| R/T | 0.2302 | likely_benign | 0.2153 | benign | -0.694 | Destabilizing | 0.91 | D | 0.698 | prob.neutral | None | None | None | -0.196(TCAP) | N |
| R/V | 0.3414 | ambiguous | 0.3257 | benign | -0.349 | Destabilizing | 0.956 | D | 0.749 | deleterious | None | None | None | -0.767(TCAP) | N |
| R/W | 0.244 | likely_benign | 0.2196 | benign | -0.699 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | -0.402(TCAP) | N |
| R/Y | 0.4557 | ambiguous | 0.4136 | ambiguous | -0.356 | Destabilizing | 0.989 | D | 0.748 | deleterious | None | None | None | -0.441(TCAP) | 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.