Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5116 | 15571;15572;15573 | chr2:178734478;178734477;178734476 | chr2:179599205;179599204;179599203 |
| N2AB | 4799 | 14620;14621;14622 | chr2:178734478;178734477;178734476 | chr2:179599205;179599204;179599203 |
| N2A | 3872 | 11839;11840;11841 | chr2:178734478;178734477;178734476 | chr2:179599205;179599204;179599203 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | rs769626460  |
0.302 | 0.967 | N | 0.401 | 0.362 | 0.62232872579 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| R/L | rs769626460 |
0.302 | 0.967 | N | 0.401 | 0.362 | 0.62232872579 | gnomAD-4.0.0 | 6.84277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52156E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/P | rs769626460 |
0.065 | 0.995 | N | 0.376 | 0.422 | 0.523650220922 | gnomAD-4.0.0 | 6.84277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| R/Q | None | -0.031 | 0.992 | N | 0.393 | 0.271 | 0.248417906384 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| R/Q | None | -0.031 | 0.992 | N | 0.393 | 0.271 | 0.248417906384 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | None | -0.031 | 0.992 | N | 0.393 | 0.271 | 0.248417906384 | gnomAD-4.0.0 | 6.19745E-06 | None | None | None | None | N | None | 1.33494E-05 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 6.78117E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8087 | likely_pathogenic | 0.8592 | pathogenic | 0.04 | Stabilizing | 0.579 | D | 0.275 | neutral | None | None | None | None | N |
| R/C | 0.4155 | ambiguous | 0.5004 | ambiguous | -0.3 | Destabilizing | 0.999 | D | 0.35 | neutral | None | None | None | None | N |
| R/D | 0.9423 | likely_pathogenic | 0.9632 | pathogenic | -0.277 | Destabilizing | 0.939 | D | 0.421 | neutral | None | None | None | None | N |
| R/E | 0.8441 | likely_pathogenic | 0.8855 | pathogenic | -0.233 | Destabilizing | 0.863 | D | 0.363 | neutral | None | None | None | None | N |
| R/F | 0.7953 | likely_pathogenic | 0.8464 | pathogenic | -0.286 | Destabilizing | 0.997 | D | 0.378 | neutral | None | None | None | None | N |
| R/G | 0.6661 | likely_pathogenic | 0.7181 | pathogenic | -0.102 | Destabilizing | 0.924 | D | 0.396 | neutral | N | 0.509962607 | None | None | N |
| R/H | 0.2479 | likely_benign | 0.2699 | benign | -0.583 | Destabilizing | 0.997 | D | 0.403 | neutral | None | None | None | None | N |
| R/I | 0.6491 | likely_pathogenic | 0.7267 | pathogenic | 0.367 | Stabilizing | 0.982 | D | 0.371 | neutral | None | None | None | None | N |
| R/K | 0.2311 | likely_benign | 0.2586 | benign | -0.186 | Destabilizing | 0.863 | D | 0.385 | neutral | None | None | None | None | N |
| R/L | 0.561 | ambiguous | 0.6292 | pathogenic | 0.367 | Stabilizing | 0.967 | D | 0.401 | neutral | N | 0.51217124 | None | None | N |
| R/M | 0.7574 | likely_pathogenic | 0.8007 | pathogenic | -0.093 | Destabilizing | 0.997 | D | 0.389 | neutral | None | None | None | None | N |
| R/N | 0.912 | likely_pathogenic | 0.9373 | pathogenic | -0.136 | Destabilizing | 0.939 | D | 0.355 | neutral | None | None | None | None | N |
| R/P | 0.7607 | likely_pathogenic | 0.8141 | pathogenic | 0.276 | Stabilizing | 0.995 | D | 0.376 | neutral | N | 0.512020307 | None | None | N |
| R/Q | 0.2963 | likely_benign | 0.3239 | benign | -0.158 | Destabilizing | 0.992 | D | 0.393 | neutral | N | 0.511568433 | None | None | N |
| R/S | 0.8588 | likely_pathogenic | 0.8937 | pathogenic | -0.318 | Destabilizing | 0.2 | N | 0.151 | neutral | None | None | None | None | N |
| R/T | 0.7634 | likely_pathogenic | 0.8081 | pathogenic | -0.166 | Destabilizing | 0.079 | N | 0.151 | neutral | None | None | None | None | N |
| R/V | 0.7063 | likely_pathogenic | 0.7828 | pathogenic | 0.276 | Stabilizing | 0.939 | D | 0.431 | neutral | None | None | None | None | N |
| R/W | 0.3779 | ambiguous | 0.4291 | ambiguous | -0.47 | Destabilizing | 0.999 | D | 0.368 | neutral | None | None | None | None | N |
| R/Y | 0.6394 | likely_pathogenic | 0.7187 | pathogenic | -0.057 | Destabilizing | 0.997 | D | 0.379 | neutral | 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.