Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19395 | 58408;58409;58410 | chr2:178594210;178594209;178594208 | chr2:179458937;179458936;179458935 |
| N2AB | 17754 | 53485;53486;53487 | chr2:178594210;178594209;178594208 | chr2:179458937;179458936;179458935 |
| N2A | 16827 | 50704;50705;50706 | chr2:178594210;178594209;178594208 | chr2:179458937;179458936;179458935 |
| N2B | 10330 | 31213;31214;31215 | chr2:178594210;178594209;178594208 | chr2:179458937;179458936;179458935 |
| Novex-1 | 10455 | 31588;31589;31590 | chr2:178594210;178594209;178594208 | chr2:179458937;179458936;179458935 |
| Novex-2 | 10522 | 31789;31790;31791 | chr2:178594210;178594209;178594208 | chr2:179458937;179458936;179458935 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.822 | N | 0.481 | 0.372 | 0.390060412749 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| K/N | None | None | 0.942 | N | 0.467 | 0.235 | 0.282179105231 | gnomAD-4.0.0 | 6.84404E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.8279E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | None | None | 0.032 | D | 0.329 | 0.109 | 0.399740851666 | gnomAD-4.0.0 | 7.52852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89541E-06 | 0 | 0 |
| K/T | rs1200343273  |
0.202 | 0.698 | N | 0.481 | 0.31 | 0.362361684037 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs1200343273 |
0.202 | 0.698 | N | 0.481 | 0.31 | 0.362361684037 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 0 | 6.71682E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3025 | likely_benign | 0.2922 | benign | -0.009 | Destabilizing | 0.754 | D | 0.492 | neutral | None | None | None | None | N |
| K/C | 0.5705 | likely_pathogenic | 0.5665 | pathogenic | -0.062 | Destabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | N |
| K/D | 0.487 | ambiguous | 0.4478 | ambiguous | 0.076 | Stabilizing | 0.956 | D | 0.466 | neutral | None | None | None | None | N |
| K/E | 0.1763 | likely_benign | 0.1513 | benign | 0.091 | Stabilizing | 0.822 | D | 0.481 | neutral | N | 0.491631039 | None | None | N |
| K/F | 0.697 | likely_pathogenic | 0.6793 | pathogenic | -0.138 | Destabilizing | 0.993 | D | 0.611 | neutral | None | None | None | None | N |
| K/G | 0.4141 | ambiguous | 0.4172 | ambiguous | -0.244 | Destabilizing | 0.86 | D | 0.469 | neutral | None | None | None | None | N |
| K/H | 0.2393 | likely_benign | 0.2309 | benign | -0.601 | Destabilizing | 0.994 | D | 0.503 | neutral | None | None | None | None | N |
| K/I | 0.2546 | likely_benign | 0.2458 | benign | 0.539 | Stabilizing | 0.978 | D | 0.607 | neutral | None | None | None | None | N |
| K/L | 0.3329 | likely_benign | 0.3204 | benign | 0.539 | Stabilizing | 0.86 | D | 0.459 | neutral | None | None | None | None | N |
| K/M | 0.1972 | likely_benign | 0.1893 | benign | 0.426 | Stabilizing | 0.997 | D | 0.5 | neutral | N | 0.50987604 | None | None | N |
| K/N | 0.2981 | likely_benign | 0.2814 | benign | 0.313 | Stabilizing | 0.942 | D | 0.467 | neutral | N | 0.493519721 | None | None | N |
| K/P | 0.8518 | likely_pathogenic | 0.8234 | pathogenic | 0.385 | Stabilizing | 0.978 | D | 0.503 | neutral | None | None | None | None | N |
| K/Q | 0.1169 | likely_benign | 0.1116 | benign | 0.104 | Stabilizing | 0.942 | D | 0.501 | neutral | N | 0.485390068 | None | None | N |
| K/R | 0.0865 | likely_benign | 0.0863 | benign | -0.029 | Destabilizing | 0.032 | N | 0.329 | neutral | D | 0.522053117 | None | None | N |
| K/S | 0.2977 | likely_benign | 0.2909 | benign | -0.208 | Destabilizing | 0.356 | N | 0.324 | neutral | None | None | None | None | N |
| K/T | 0.1045 | likely_benign | 0.1031 | benign | -0.037 | Destabilizing | 0.698 | D | 0.481 | neutral | N | 0.477320905 | None | None | N |
| K/V | 0.2303 | likely_benign | 0.2271 | benign | 0.385 | Stabilizing | 0.978 | D | 0.492 | neutral | None | None | None | None | N |
| K/W | 0.7682 | likely_pathogenic | 0.7412 | pathogenic | -0.109 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| K/Y | 0.5429 | ambiguous | 0.531 | ambiguous | 0.236 | Stabilizing | 0.993 | D | 0.565 | 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.