Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30989 | 93190;93191;93192 | chr2:178548661;178548660;178548659 | chr2:179413388;179413387;179413386 |
| N2AB | 29348 | 88267;88268;88269 | chr2:178548661;178548660;178548659 | chr2:179413388;179413387;179413386 |
| N2A | 28421 | 85486;85487;85488 | chr2:178548661;178548660;178548659 | chr2:179413388;179413387;179413386 |
| N2B | 21924 | 65995;65996;65997 | chr2:178548661;178548660;178548659 | chr2:179413388;179413387;179413386 |
| Novex-1 | 22049 | 66370;66371;66372 | chr2:178548661;178548660;178548659 | chr2:179413388;179413387;179413386 |
| Novex-2 | 22116 | 66571;66572;66573 | chr2:178548661;178548660;178548659 | chr2:179413388;179413387;179413386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs755136924  |
0.356 | 0.188 | N | 0.312 | 0.116 | 0.344483371355 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/I | rs755136924 |
0.356 | 0.188 | N | 0.312 | 0.116 | 0.344483371355 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 1.30976E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/I | rs755136924 |
0.356 | 0.188 | N | 0.312 | 0.116 | 0.344483371355 | gnomAD-4.0.0 | 1.31415E-05 | None | None | None | None | I | None | 0 | 1.30976E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs755136924 |
0.517 | 0.027 | N | 0.305 | 0.1 | 0.0482279557977 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/S | rs755136924 |
0.517 | 0.027 | N | 0.305 | 0.1 | 0.0482279557977 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs755136924 |
0.517 | 0.027 | N | 0.305 | 0.1 | 0.0482279557977 | gnomAD-4.0.0 | 4.33765E-06 | None | None | None | None | I | None | 1.33451E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23799E-06 | 0 | 1.60113E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1507 | likely_benign | 0.1614 | benign | -0.252 | Destabilizing | 0.035 | N | 0.339 | neutral | None | None | None | None | I |
| N/C | 0.2219 | likely_benign | 0.24 | benign | 0.438 | Stabilizing | 0.824 | D | 0.323 | neutral | None | None | None | None | I |
| N/D | 0.1154 | likely_benign | 0.1145 | benign | 0.043 | Stabilizing | 0.117 | N | 0.277 | neutral | N | 0.382460077 | None | None | I |
| N/E | 0.2433 | likely_benign | 0.2521 | benign | -0.001 | Destabilizing | 0.149 | N | 0.253 | neutral | None | None | None | None | I |
| N/F | 0.2917 | likely_benign | 0.2921 | benign | -0.666 | Destabilizing | 0.081 | N | 0.36 | neutral | None | None | None | None | I |
| N/G | 0.2131 | likely_benign | 0.2298 | benign | -0.413 | Destabilizing | 0.149 | N | 0.265 | neutral | None | None | None | None | I |
| N/H | 0.083 | likely_benign | 0.0857 | benign | -0.477 | Destabilizing | 0.317 | N | 0.362 | neutral | N | 0.443799324 | None | None | I |
| N/I | 0.1665 | likely_benign | 0.1791 | benign | 0.081 | Stabilizing | 0.188 | N | 0.312 | neutral | N | 0.470273849 | None | None | I |
| N/K | 0.214 | likely_benign | 0.2322 | benign | 0.098 | Stabilizing | 0.117 | N | 0.254 | neutral | N | 0.412860341 | None | None | I |
| N/L | 0.1468 | likely_benign | 0.1514 | benign | 0.081 | Stabilizing | 0.081 | N | 0.354 | neutral | None | None | None | None | I |
| N/M | 0.1992 | likely_benign | 0.2095 | benign | 0.435 | Stabilizing | 0.555 | D | 0.321 | neutral | None | None | None | None | I |
| N/P | 0.6735 | likely_pathogenic | 0.7241 | pathogenic | -0.004 | Destabilizing | 0.555 | D | 0.338 | neutral | None | None | None | None | I |
| N/Q | 0.1997 | likely_benign | 0.2118 | benign | -0.281 | Destabilizing | 0.555 | D | 0.321 | neutral | None | None | None | None | I |
| N/R | 0.2258 | likely_benign | 0.238 | benign | 0.164 | Stabilizing | 0.38 | N | 0.301 | neutral | None | None | None | None | I |
| N/S | 0.0769 | likely_benign | 0.0805 | benign | -0.042 | Destabilizing | 0.027 | N | 0.305 | neutral | N | 0.38107321 | None | None | I |
| N/T | 0.0936 | likely_benign | 0.1008 | benign | 0.046 | Stabilizing | None | N | 0.221 | neutral | N | 0.418151518 | None | None | I |
| N/V | 0.1692 | likely_benign | 0.1792 | benign | -0.004 | Destabilizing | 0.081 | N | 0.342 | neutral | None | None | None | None | I |
| N/W | 0.4916 | ambiguous | 0.5056 | ambiguous | -0.696 | Destabilizing | 0.824 | D | 0.323 | neutral | None | None | None | None | I |
| N/Y | 0.094 | likely_benign | 0.0929 | benign | -0.42 | Destabilizing | None | N | 0.197 | neutral | N | 0.384887093 | None | None | I |
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.