Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32580 | 97963;97964;97965 | chr2:178541339;178541338;178541337 | chr2:179406066;179406065;179406064 |
| N2AB | 30939 | 93040;93041;93042 | chr2:178541339;178541338;178541337 | chr2:179406066;179406065;179406064 |
| N2A | 30012 | 90259;90260;90261 | chr2:178541339;178541338;178541337 | chr2:179406066;179406065;179406064 |
| N2B | 23515 | 70768;70769;70770 | chr2:178541339;178541338;178541337 | chr2:179406066;179406065;179406064 |
| Novex-1 | 23640 | 71143;71144;71145 | chr2:178541339;178541338;178541337 | chr2:179406066;179406065;179406064 |
| Novex-2 | 23707 | 71344;71345;71346 | chr2:178541339;178541338;178541337 | chr2:179406066;179406065;179406064 |
| 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/T | rs1427710348  |
0.068 | 1.0 | N | 0.703 | 0.372 | 0.480123561213 | gnomAD-2.1.1 | 5.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.18E-05 | 0 |
| R/T | rs1427710348 |
0.068 | 1.0 | N | 0.703 | 0.372 | 0.480123561213 | gnomAD-4.0.0 | 3.37475E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.03468E-06 | 0 | 3.14505E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4383 | ambiguous | 0.4143 | ambiguous | 0.096 | Stabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | I |
| R/C | 0.1704 | likely_benign | 0.1782 | benign | -0.154 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| R/D | 0.8889 | likely_pathogenic | 0.8704 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| R/E | 0.5672 | likely_pathogenic | 0.5467 | ambiguous | -0.198 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | I |
| R/F | 0.6155 | likely_pathogenic | 0.6158 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| R/G | 0.3825 | ambiguous | 0.3559 | ambiguous | -0.062 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.417487875 | None | None | I |
| R/H | 0.1637 | likely_benign | 0.1608 | benign | -0.611 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| R/I | 0.319 | likely_benign | 0.31 | benign | 0.467 | Stabilizing | 1.0 | D | 0.763 | deleterious | N | 0.384935526 | None | None | I |
| R/K | 0.1187 | likely_benign | 0.1186 | benign | -0.067 | Destabilizing | 0.997 | D | 0.459 | neutral | N | 0.413447492 | None | None | I |
| R/L | 0.3211 | likely_benign | 0.3189 | benign | 0.467 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| R/M | 0.3304 | likely_benign | 0.3318 | benign | -0.007 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| R/N | 0.7698 | likely_pathogenic | 0.7525 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| R/P | 0.8985 | likely_pathogenic | 0.8825 | pathogenic | 0.362 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| R/Q | 0.1248 | likely_benign | 0.1253 | benign | 0.006 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| R/S | 0.6503 | likely_pathogenic | 0.6263 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.417970665 | None | None | I |
| R/T | 0.4299 | ambiguous | 0.4223 | ambiguous | 0.019 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.439884732 | None | None | I |
| R/V | 0.4067 | ambiguous | 0.3923 | ambiguous | 0.362 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| R/W | 0.2352 | likely_benign | 0.2476 | benign | -0.369 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| R/Y | 0.475 | ambiguous | 0.4843 | ambiguous | 0.049 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | 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.