Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14232 | 42919;42920;42921 | chr2:178633665;178633664;178633663 | chr2:179498392;179498391;179498390 |
| N2AB | 12591 | 37996;37997;37998 | chr2:178633665;178633664;178633663 | chr2:179498392;179498391;179498390 |
| N2A | 11664 | 35215;35216;35217 | chr2:178633665;178633664;178633663 | chr2:179498392;179498391;179498390 |
| N2B | 5167 | 15724;15725;15726 | chr2:178633665;178633664;178633663 | chr2:179498392;179498391;179498390 |
| Novex-1 | 5292 | 16099;16100;16101 | chr2:178633665;178633664;178633663 | chr2:179498392;179498391;179498390 |
| Novex-2 | 5359 | 16300;16301;16302 | chr2:178633665;178633664;178633663 | chr2:179498392;179498391;179498390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1200157031  |
-0.064 | 0.151 | D | 0.424 | 0.287 | 0.42748209135 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs1200157031 |
-0.064 | 0.151 | D | 0.424 | 0.287 | 0.42748209135 | gnomAD-4.0.0 | 3.18758E-06 | None | None | None | None | N | None | 0 | 4.5798E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5718 | likely_pathogenic | 0.5755 | pathogenic | -1.394 | Destabilizing | 0.97 | D | 0.445 | neutral | None | None | None | None | N |
| Y/C | 0.1961 | likely_benign | 0.183 | benign | -0.193 | Destabilizing | 0.151 | N | 0.424 | neutral | D | 0.550384142 | None | None | N |
| Y/D | 0.5323 | ambiguous | 0.5636 | ambiguous | 0.321 | Stabilizing | 0.998 | D | 0.597 | neutral | N | 0.506752173 | None | None | N |
| Y/E | 0.7753 | likely_pathogenic | 0.7868 | pathogenic | 0.344 | Stabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | N |
| Y/F | 0.1092 | likely_benign | 0.1066 | benign | -0.616 | Destabilizing | 0.071 | N | 0.251 | neutral | N | 0.509820485 | None | None | N |
| Y/G | 0.5958 | likely_pathogenic | 0.6059 | pathogenic | -1.645 | Destabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | N |
| Y/H | 0.2807 | likely_benign | 0.2858 | benign | -0.279 | Destabilizing | 0.998 | D | 0.442 | neutral | N | 0.507163489 | None | None | N |
| Y/I | 0.4529 | ambiguous | 0.4591 | ambiguous | -0.694 | Destabilizing | 0.991 | D | 0.443 | neutral | None | None | None | None | N |
| Y/K | 0.6861 | likely_pathogenic | 0.707 | pathogenic | -0.359 | Destabilizing | 0.999 | D | 0.552 | neutral | None | None | None | None | N |
| Y/L | 0.5088 | ambiguous | 0.5243 | ambiguous | -0.694 | Destabilizing | 0.942 | D | 0.469 | neutral | None | None | None | None | N |
| Y/M | 0.7049 | likely_pathogenic | 0.7079 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.482 | neutral | None | None | None | None | N |
| Y/N | 0.3222 | likely_benign | 0.3194 | benign | -0.565 | Destabilizing | 0.998 | D | 0.545 | neutral | N | 0.504939668 | None | None | N |
| Y/P | 0.9419 | likely_pathogenic | 0.9544 | pathogenic | -0.913 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| Y/Q | 0.6338 | likely_pathogenic | 0.6477 | pathogenic | -0.517 | Destabilizing | 0.999 | D | 0.474 | neutral | None | None | None | None | N |
| Y/R | 0.481 | ambiguous | 0.5012 | ambiguous | 0.013 | Stabilizing | 0.999 | D | 0.554 | neutral | None | None | None | None | N |
| Y/S | 0.275 | likely_benign | 0.2842 | benign | -1.047 | Destabilizing | 0.994 | D | 0.471 | neutral | N | 0.500659443 | None | None | N |
| Y/T | 0.5189 | ambiguous | 0.4924 | ambiguous | -0.934 | Destabilizing | 0.996 | D | 0.475 | neutral | None | None | None | None | N |
| Y/V | 0.3303 | likely_benign | 0.3273 | benign | -0.913 | Destabilizing | 0.97 | D | 0.435 | neutral | None | None | None | None | N |
| Y/W | 0.5271 | ambiguous | 0.577 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.442 | 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.