Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17301 | 52126;52127;52128 | chr2:178609409;178609408;178609407 | chr2:179474136;179474135;179474134 |
| N2AB | 15660 | 47203;47204;47205 | chr2:178609409;178609408;178609407 | chr2:179474136;179474135;179474134 |
| N2A | 14733 | 44422;44423;44424 | chr2:178609409;178609408;178609407 | chr2:179474136;179474135;179474134 |
| N2B | 8236 | 24931;24932;24933 | chr2:178609409;178609408;178609407 | chr2:179474136;179474135;179474134 |
| Novex-1 | 8361 | 25306;25307;25308 | chr2:178609409;178609408;178609407 | chr2:179474136;179474135;179474134 |
| Novex-2 | 8428 | 25507;25508;25509 | chr2:178609409;178609408;178609407 | chr2:179474136;179474135;179474134 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs775005250  |
-0.602 | None | N | 0.227 | 0.074 | 0.582449840715 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs377029308 |
-0.272 | 0.012 | N | 0.383 | 0.134 | None | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs377029308 |
-0.272 | 0.012 | N | 0.383 | 0.134 | None | gnomAD-4.0.0 | 6.58605E-06 | None | None | None | None | N | None | 2.41779E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs775005250 |
-0.791 | None | N | 0.177 | 0.06 | 0.272205846399 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1063 | likely_benign | 0.119 | benign | -0.419 | Destabilizing | None | N | 0.186 | neutral | N | 0.486108172 | None | None | N |
| V/C | 0.4524 | ambiguous | 0.5083 | ambiguous | -0.861 | Destabilizing | 0.356 | N | 0.441 | neutral | None | None | None | None | N |
| V/D | 0.208 | likely_benign | 0.2185 | benign | -0.408 | Destabilizing | 0.055 | N | 0.447 | neutral | N | 0.488535189 | None | None | N |
| V/E | 0.1589 | likely_benign | 0.1583 | benign | -0.508 | Destabilizing | 0.072 | N | 0.412 | neutral | None | None | None | None | N |
| V/F | 0.1209 | likely_benign | 0.1243 | benign | -0.769 | Destabilizing | None | N | 0.227 | neutral | N | 0.488188472 | None | None | N |
| V/G | 0.0996 | likely_benign | 0.1111 | benign | -0.473 | Destabilizing | 0.012 | N | 0.383 | neutral | N | 0.488361831 | None | None | N |
| V/H | 0.2599 | likely_benign | 0.271 | benign | -0.057 | Destabilizing | 0.628 | D | 0.508 | neutral | None | None | None | None | N |
| V/I | 0.0803 | likely_benign | 0.0826 | benign | -0.402 | Destabilizing | None | N | 0.177 | neutral | N | 0.448763292 | None | None | N |
| V/K | 0.148 | likely_benign | 0.1579 | benign | -0.486 | Destabilizing | 0.001 | N | 0.319 | neutral | None | None | None | None | N |
| V/L | 0.109 | likely_benign | 0.116 | benign | -0.402 | Destabilizing | 0.005 | N | 0.202 | neutral | N | 0.449110009 | None | None | N |
| V/M | 0.1406 | likely_benign | 0.152 | benign | -0.739 | Destabilizing | 0.214 | N | 0.468 | neutral | None | None | None | None | N |
| V/N | 0.1472 | likely_benign | 0.1493 | benign | -0.318 | Destabilizing | 0.072 | N | 0.503 | neutral | None | None | None | None | N |
| V/P | 0.1276 | likely_benign | 0.1202 | benign | -0.382 | Destabilizing | None | N | 0.319 | neutral | None | None | None | None | N |
| V/Q | 0.1411 | likely_benign | 0.1441 | benign | -0.491 | Destabilizing | 0.214 | N | 0.546 | neutral | None | None | None | None | N |
| V/R | 0.137 | likely_benign | 0.1342 | benign | -0.085 | Destabilizing | 0.038 | N | 0.498 | neutral | None | None | None | None | N |
| V/S | 0.11 | likely_benign | 0.1161 | benign | -0.609 | Destabilizing | 0.016 | N | 0.356 | neutral | None | None | None | None | N |
| V/T | 0.1206 | likely_benign | 0.1263 | benign | -0.624 | Destabilizing | None | N | 0.161 | neutral | None | None | None | None | N |
| V/W | 0.4908 | ambiguous | 0.5176 | ambiguous | -0.826 | Destabilizing | 0.864 | D | 0.522 | neutral | None | None | None | None | N |
| V/Y | 0.2909 | likely_benign | 0.3002 | benign | -0.575 | Destabilizing | 0.038 | N | 0.483 | 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.