Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7383 | 22372;22373;22374 | chr2:178722752;178722751;178722750 | chr2:179587479;179587478;179587477 |
| N2AB | 7066 | 21421;21422;21423 | chr2:178722752;178722751;178722750 | chr2:179587479;179587478;179587477 |
| N2A | 6139 | 18640;18641;18642 | chr2:178722752;178722751;178722750 | chr2:179587479;179587478;179587477 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs562295146  |
-0.33 | 0.003 | N | 0.093 | 0.151 | 0.180583059064 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.14E-05 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.84E-06 | 0 |
| N/S | rs562295146 |
-0.33 | 0.003 | N | 0.093 | 0.151 | 0.180583059064 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 3.27568E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs562295146 |
-0.33 | 0.003 | N | 0.093 | 0.151 | 0.180583059064 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| N/S | rs562295146 |
-0.33 | 0.003 | N | 0.093 | 0.151 | 0.180583059064 | gnomAD-4.0.0 | 1.02536E-05 | None | None | None | None | N | None | 1.68782E-05 | 8.47831E-05 | None | 0 | 0 | None | 0 | 0 | 4.789E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1811 | likely_benign | 0.261 | benign | -0.694 | Destabilizing | 0.001 | N | 0.15 | neutral | None | None | None | None | N |
| N/C | 0.2541 | likely_benign | 0.3544 | ambiguous | 0.145 | Stabilizing | 0.995 | D | 0.365 | neutral | None | None | None | None | N |
| N/D | 0.1434 | likely_benign | 0.2148 | benign | -0.025 | Destabilizing | 0.366 | N | 0.232 | neutral | N | 0.478819627 | None | None | N |
| N/E | 0.3441 | ambiguous | 0.4889 | ambiguous | -0.002 | Destabilizing | 0.513 | D | 0.222 | neutral | None | None | None | None | N |
| N/F | 0.4598 | ambiguous | 0.6103 | pathogenic | -0.75 | Destabilizing | 0.971 | D | 0.421 | neutral | None | None | None | None | N |
| N/G | 0.1769 | likely_benign | 0.242 | benign | -0.95 | Destabilizing | 0.57 | D | 0.235 | neutral | None | None | None | None | N |
| N/H | 0.0783 | likely_benign | 0.0905 | benign | -0.819 | Destabilizing | 0.019 | N | 0.178 | neutral | N | 0.472125729 | None | None | N |
| N/I | 0.2257 | likely_benign | 0.3337 | benign | -0.082 | Destabilizing | 0.574 | D | 0.452 | neutral | N | 0.499234972 | None | None | N |
| N/K | 0.241 | likely_benign | 0.3634 | ambiguous | -0.01 | Destabilizing | 0.598 | D | 0.239 | neutral | N | 0.466813122 | None | None | N |
| N/L | 0.1879 | likely_benign | 0.2465 | benign | -0.082 | Destabilizing | 0.011 | N | 0.237 | neutral | None | None | None | None | N |
| N/M | 0.3168 | likely_benign | 0.4191 | ambiguous | 0.399 | Stabilizing | 0.926 | D | 0.378 | neutral | None | None | None | None | N |
| N/P | 0.259 | likely_benign | 0.3267 | benign | -0.257 | Destabilizing | 0.845 | D | 0.419 | neutral | None | None | None | None | N |
| N/Q | 0.232 | likely_benign | 0.3159 | benign | -0.603 | Destabilizing | 0.781 | D | 0.267 | neutral | None | None | None | None | N |
| N/R | 0.2254 | likely_benign | 0.3436 | ambiguous | 0.032 | Stabilizing | 0.029 | N | 0.165 | neutral | None | None | None | None | N |
| N/S | 0.0637 | likely_benign | 0.0687 | benign | -0.493 | Destabilizing | 0.003 | N | 0.093 | neutral | N | 0.419059248 | None | None | N |
| N/T | 0.1084 | likely_benign | 0.1446 | benign | -0.292 | Destabilizing | 0.156 | N | 0.236 | neutral | N | 0.471624296 | None | None | N |
| N/V | 0.232 | likely_benign | 0.342 | ambiguous | -0.257 | Destabilizing | 0.13 | N | 0.433 | neutral | None | None | None | None | N |
| N/W | 0.6454 | likely_pathogenic | 0.7621 | pathogenic | -0.541 | Destabilizing | 0.999 | D | 0.396 | neutral | None | None | None | None | N |
| N/Y | 0.1465 | likely_benign | 0.1985 | benign | -0.334 | Destabilizing | 0.962 | D | 0.399 | neutral | N | 0.481918648 | 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.