Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5418 | 16477;16478;16479 | chr2:178732924;178732923;178732922 | chr2:179597651;179597650;179597649 |
| N2AB | 5101 | 15526;15527;15528 | chr2:178732924;178732923;178732922 | chr2:179597651;179597650;179597649 |
| N2A | 4174 | 12745;12746;12747 | chr2:178732924;178732923;178732922 | chr2:179597651;179597650;179597649 |
| 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/G | rs375436388  |
-0.664 | None | N | 0.106 | 0.191 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/G | rs375436388 |
-0.664 | None | N | 0.106 | 0.191 | None | 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 |
| R/G | rs375436388 |
-0.664 | None | N | 0.106 | 0.191 | None | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47033E-05 | 0 | 0 |
| R/S | rs1252883471 |
None | None | N | 0.179 | 0.135 | 0.0716867268079 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/S | rs1252883471 |
None | None | N | 0.179 | 0.135 | 0.0716867268079 | gnomAD-4.0.0 | 1.30158E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78005E-05 | 0 | 0 |
| R/T | rs2080809923 |
None | 0.012 | N | 0.243 | 0.122 | 0.210429274316 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs2080809923 |
None | 0.012 | N | 0.243 | 0.122 | 0.210429274316 | gnomAD-4.0.0 | 6.57203E-06 | None | None | None | None | I | None | 2.41359E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1236 | likely_benign | 0.1334 | benign | -0.244 | Destabilizing | 0.007 | N | 0.214 | neutral | None | None | None | None | I |
| R/C | 0.1155 | likely_benign | 0.1187 | benign | -0.235 | Destabilizing | 0.864 | D | 0.245 | neutral | None | None | None | None | I |
| R/D | 0.1819 | likely_benign | 0.201 | benign | 0.068 | Stabilizing | 0.016 | N | 0.245 | neutral | None | None | None | None | I |
| R/E | 0.1434 | likely_benign | 0.1571 | benign | 0.158 | Stabilizing | 0.016 | N | 0.175 | neutral | None | None | None | None | I |
| R/F | 0.2929 | likely_benign | 0.3292 | benign | -0.284 | Destabilizing | 0.356 | N | 0.283 | neutral | None | None | None | None | I |
| R/G | 0.0766 | likely_benign | 0.0779 | benign | -0.499 | Destabilizing | None | N | 0.106 | neutral | N | 0.467289472 | None | None | I |
| R/H | 0.0654 | likely_benign | 0.0669 | benign | -0.925 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | I |
| R/I | 0.1962 | likely_benign | 0.2162 | benign | 0.411 | Stabilizing | 0.295 | N | 0.312 | neutral | N | 0.469023429 | None | None | I |
| R/K | 0.0817 | likely_benign | 0.0846 | benign | -0.241 | Destabilizing | None | N | 0.125 | neutral | N | 0.418034088 | None | None | I |
| R/L | 0.1323 | likely_benign | 0.1452 | benign | 0.411 | Stabilizing | 0.072 | N | 0.3 | neutral | None | None | None | None | I |
| R/M | 0.1649 | likely_benign | 0.1811 | benign | 0.024 | Stabilizing | 0.628 | D | 0.281 | neutral | None | None | None | None | I |
| R/N | 0.1573 | likely_benign | 0.1822 | benign | 0.179 | Stabilizing | None | N | 0.121 | neutral | None | None | None | None | I |
| R/P | 0.334 | likely_benign | 0.3634 | ambiguous | 0.214 | Stabilizing | 0.136 | N | 0.331 | neutral | None | None | None | None | I |
| R/Q | 0.0708 | likely_benign | 0.0724 | benign | 0.024 | Stabilizing | 0.038 | N | 0.218 | neutral | None | None | None | None | I |
| R/S | 0.1257 | likely_benign | 0.1355 | benign | -0.374 | Destabilizing | None | N | 0.179 | neutral | N | 0.434560978 | None | None | I |
| R/T | 0.0938 | likely_benign | 0.101 | benign | -0.125 | Destabilizing | 0.012 | N | 0.243 | neutral | N | 0.460883575 | None | None | I |
| R/V | 0.2112 | likely_benign | 0.2355 | benign | 0.214 | Stabilizing | 0.072 | N | 0.335 | neutral | None | None | None | None | I |
| R/W | 0.12 | likely_benign | 0.1285 | benign | -0.156 | Destabilizing | 0.864 | D | 0.245 | neutral | None | None | None | None | I |
| R/Y | 0.1846 | likely_benign | 0.2098 | benign | 0.207 | Stabilizing | 0.214 | N | 0.316 | neutral | 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.