Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21462 | 64609;64610;64611 | chr2:178586517;178586516;178586515 | chr2:179451244;179451243;179451242 |
| N2AB | 19821 | 59686;59687;59688 | chr2:178586517;178586516;178586515 | chr2:179451244;179451243;179451242 |
| N2A | 18894 | 56905;56906;56907 | chr2:178586517;178586516;178586515 | chr2:179451244;179451243;179451242 |
| N2B | 12397 | 37414;37415;37416 | chr2:178586517;178586516;178586515 | chr2:179451244;179451243;179451242 |
| Novex-1 | 12522 | 37789;37790;37791 | chr2:178586517;178586516;178586515 | chr2:179451244;179451243;179451242 |
| Novex-2 | 12589 | 37990;37991;37992 | chr2:178586517;178586516;178586515 | chr2:179451244;179451243;179451242 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs1275082313  |
-0.095 | 0.997 | D | 0.634 | 0.204 | 0.467161347466 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1275082313 |
-0.095 | 0.997 | D | 0.634 | 0.204 | 0.467161347466 | gnomAD-4.0.0 | 1.36914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52411E-05 | None | 0 | 0 | 0 | 0 | 1.65761E-05 |
| K/T | None | None | 0.999 | N | 0.671 | 0.453 | 0.457922657367 | gnomAD-4.0.0 | 6.8457E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99842E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5938 | likely_pathogenic | 0.5277 | ambiguous | -0.293 | Destabilizing | 0.998 | D | 0.691 | prob.delet. | None | None | None | None | N |
| K/C | 0.7981 | likely_pathogenic | 0.7561 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| K/D | 0.9224 | likely_pathogenic | 0.8905 | pathogenic | -0.281 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/E | 0.4086 | ambiguous | 0.3449 | ambiguous | -0.229 | Destabilizing | 0.997 | D | 0.677 | prob.neutral | N | 0.486841191 | None | None | N |
| K/F | 0.9216 | likely_pathogenic | 0.8961 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/G | 0.7399 | likely_pathogenic | 0.6749 | pathogenic | -0.604 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| K/H | 0.5213 | ambiguous | 0.4793 | ambiguous | -1.05 | Destabilizing | 1.0 | D | 0.571 | neutral | None | None | None | None | N |
| K/I | 0.5639 | ambiguous | 0.5252 | ambiguous | 0.484 | Stabilizing | 0.999 | D | 0.757 | deleterious | N | 0.495554605 | None | None | N |
| K/L | 0.6423 | likely_pathogenic | 0.5837 | pathogenic | 0.484 | Stabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| K/M | 0.4639 | ambiguous | 0.4063 | ambiguous | 0.481 | Stabilizing | 1.0 | D | 0.566 | neutral | None | None | None | None | N |
| K/N | 0.8348 | likely_pathogenic | 0.786 | pathogenic | -0.193 | Destabilizing | 0.999 | D | 0.703 | prob.delet. | D | 0.5257095 | None | None | N |
| K/P | 0.9783 | likely_pathogenic | 0.9732 | pathogenic | 0.256 | Stabilizing | 0.999 | D | 0.665 | prob.neutral | None | None | None | None | N |
| K/Q | 0.2098 | likely_benign | 0.1892 | benign | -0.392 | Destabilizing | 0.999 | D | 0.736 | deleterious | N | 0.480373184 | None | None | N |
| K/R | 0.0881 | likely_benign | 0.0868 | benign | -0.459 | Destabilizing | 0.997 | D | 0.634 | neutral | D | 0.52653343 | None | None | N |
| K/S | 0.7303 | likely_pathogenic | 0.6694 | pathogenic | -0.741 | Destabilizing | 0.998 | D | 0.727 | deleterious | None | None | None | None | N |
| K/T | 0.3528 | ambiguous | 0.313 | benign | -0.515 | Destabilizing | 0.999 | D | 0.671 | prob.neutral | N | 0.498704475 | None | None | N |
| K/V | 0.4183 | ambiguous | 0.3896 | ambiguous | 0.256 | Stabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| K/W | 0.9012 | likely_pathogenic | 0.8761 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/Y | 0.8797 | likely_pathogenic | 0.8414 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.751 | 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.