Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7223 | 21892;21893;21894 | chr2:178723433;178723432;178723431 | chr2:179588160;179588159;179588158 |
| N2AB | 6906 | 20941;20942;20943 | chr2:178723433;178723432;178723431 | chr2:179588160;179588159;179588158 |
| N2A | 5979 | 18160;18161;18162 | chr2:178723433;178723432;178723431 | chr2:179588160;179588159;179588158 |
| 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/C | rs1156609638  |
None | 0.985 | D | 0.467 | 0.327 | 0.663301836877 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs1156609638 |
None | 0.985 | D | 0.467 | 0.327 | 0.663301836877 | gnomAD-4.0.0 | 4.34194E-06 | None | None | None | None | N | None | 1.33565E-05 | 3.34001E-05 | None | 0 | 0 | None | 0 | 0 | 2.54452E-06 | 0 | 1.60308E-05 |
| R/H | rs138853909 |
-1.707 | 0.004 | N | 0.145 | 0.069 | None | gnomAD-2.1.1 | 5.82411E-04 | None | None | None | None | N | None | 1.98643E-03 | 9.68716E-04 | None | 1.76125E-03 | 0 | None | 0 | None | 4.03E-05 | 4.32329E-04 | 8.51305E-04 |
| R/H | rs138853909 |
-1.707 | 0.004 | N | 0.145 | 0.069 | None | gnomAD-3.1.2 | 9.33547E-04 | None | None | None | None | N | None | 2.14862E-03 | 1.3113E-03 | 0 | 1.72911E-03 | 0 | None | 0 | 0 | 3.67582E-04 | 0 | 9.57854E-04 |
| R/H | rs138853909 |
-1.707 | 0.004 | N | 0.145 | 0.069 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 1.5E-03 | 2.9E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/H | rs138853909 |
-1.707 | 0.004 | N | 0.145 | 0.069 | None | gnomAD-4.0.0 | 3.27005E-04 | None | None | None | None | N | None | 2.01516E-03 | 9.6977E-04 | None | 1.59376E-03 | 0 | None | 1.56455E-05 | 1.48908E-03 | 1.8581E-04 | 1.10244E-05 | 6.57409E-04 |
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 | 0.1996 | likely_benign | 0.229 | benign | -0.199 | Destabilizing | 0.004 | N | 0.162 | neutral | None | None | None | None | N |
| R/C | 0.0919 | likely_benign | 0.1118 | benign | -0.126 | Destabilizing | 0.985 | D | 0.467 | neutral | D | 0.523823985 | None | None | N |
| R/D | 0.2435 | likely_benign | 0.2963 | benign | 0.058 | Stabilizing | 0.129 | N | 0.379 | neutral | None | None | None | None | N |
| R/E | 0.1912 | likely_benign | 0.2077 | benign | 0.151 | Stabilizing | 0.228 | N | 0.233 | neutral | None | None | None | None | N |
| R/F | 0.2241 | likely_benign | 0.2691 | benign | -0.222 | Destabilizing | 0.836 | D | 0.533 | neutral | None | None | None | None | N |
| R/G | 0.1343 | likely_benign | 0.1595 | benign | -0.461 | Destabilizing | 0.199 | N | 0.257 | neutral | N | 0.48958035 | None | None | N |
| R/H | 0.0571 | likely_benign | 0.0585 | benign | -0.953 | Destabilizing | 0.004 | N | 0.145 | neutral | N | 0.426334724 | None | None | N |
| R/I | 0.1848 | likely_benign | 0.2007 | benign | 0.476 | Stabilizing | 0.418 | N | 0.525 | neutral | None | None | None | None | N |
| R/K | 0.1122 | likely_benign | 0.1122 | benign | -0.189 | Destabilizing | 0.004 | N | 0.137 | neutral | None | None | None | None | N |
| R/L | 0.1273 | likely_benign | 0.1396 | benign | 0.476 | Stabilizing | 0.362 | N | 0.342 | neutral | N | 0.491711567 | None | None | N |
| R/M | 0.2412 | likely_benign | 0.2399 | benign | 0.091 | Stabilizing | 0.94 | D | 0.462 | neutral | None | None | None | None | N |
| R/N | 0.1937 | likely_benign | 0.225 | benign | 0.247 | Stabilizing | 0.001 | N | 0.116 | neutral | None | None | None | None | N |
| R/P | 0.3525 | ambiguous | 0.445 | ambiguous | 0.273 | Stabilizing | 0.895 | D | 0.507 | neutral | N | 0.48333938 | None | None | N |
| R/Q | 0.078 | likely_benign | 0.0816 | benign | 0.102 | Stabilizing | 0.418 | N | 0.398 | neutral | None | None | None | None | N |
| R/S | 0.1713 | likely_benign | 0.2064 | benign | -0.276 | Destabilizing | 0.11 | N | 0.209 | neutral | N | 0.462791382 | None | None | N |
| R/T | 0.1412 | likely_benign | 0.1499 | benign | -0.024 | Destabilizing | 0.004 | N | 0.157 | neutral | None | None | None | None | N |
| R/V | 0.2063 | likely_benign | 0.2258 | benign | 0.273 | Stabilizing | 0.228 | N | 0.399 | neutral | None | None | None | None | N |
| R/W | 0.1191 | likely_benign | 0.1217 | benign | -0.103 | Destabilizing | 0.983 | D | 0.479 | neutral | None | None | None | None | N |
| R/Y | 0.1286 | likely_benign | 0.1507 | benign | 0.261 | Stabilizing | 0.264 | N | 0.532 | 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.