Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28828 | 86707;86708;86709 | chr2:178559650;178559649;178559648 | chr2:179424377;179424376;179424375 |
| N2AB | 27187 | 81784;81785;81786 | chr2:178559650;178559649;178559648 | chr2:179424377;179424376;179424375 |
| N2A | 26260 | 79003;79004;79005 | chr2:178559650;178559649;178559648 | chr2:179424377;179424376;179424375 |
| N2B | 19763 | 59512;59513;59514 | chr2:178559650;178559649;178559648 | chr2:179424377;179424376;179424375 |
| Novex-1 | 19888 | 59887;59888;59889 | chr2:178559650;178559649;178559648 | chr2:179424377;179424376;179424375 |
| Novex-2 | 19955 | 60088;60089;60090 | chr2:178559650;178559649;178559648 | chr2:179424377;179424376;179424375 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1312264246  |
-0.302 | 0.007 | N | 0.203 | 0.161 | 0.18274738541 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Q/E | rs1312264246 |
-0.302 | 0.007 | N | 0.203 | 0.161 | 0.18274738541 | gnomAD-4.0.0 | 2.73726E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59821E-06 | 0 | 0 |
| Q/K | rs1312264246 |
None | 0.309 | N | 0.407 | 0.216 | 0.197625483188 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/K | rs1312264246 |
None | 0.309 | N | 0.407 | 0.216 | 0.197625483188 | gnomAD-4.0.0 | 2.73726E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59821E-06 | 0 | 0 |
| Q/R | rs1412211195 |
None | 0.684 | N | 0.451 | 0.185 | 0.247872288689 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1412211195 |
None | 0.684 | N | 0.451 | 0.185 | 0.247872288689 | gnomAD-4.0.0 | 2.5627E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.84848E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3618 | ambiguous | 0.3199 | benign | -0.379 | Destabilizing | 0.373 | N | 0.44 | neutral | None | None | None | None | I |
| Q/C | 0.6827 | likely_pathogenic | 0.6478 | pathogenic | 0.236 | Stabilizing | 0.996 | D | 0.543 | neutral | None | None | None | None | I |
| Q/D | 0.5321 | ambiguous | 0.463 | ambiguous | -0.655 | Destabilizing | 0.59 | D | 0.359 | neutral | None | None | None | None | I |
| Q/E | 0.0945 | likely_benign | 0.0873 | benign | -0.647 | Destabilizing | 0.007 | N | 0.203 | neutral | N | 0.359069582 | None | None | I |
| Q/F | 0.8508 | likely_pathogenic | 0.8211 | pathogenic | -0.551 | Destabilizing | 0.984 | D | 0.531 | neutral | None | None | None | None | I |
| Q/G | 0.4128 | ambiguous | 0.3694 | ambiguous | -0.631 | Destabilizing | 0.742 | D | 0.509 | neutral | None | None | None | None | I |
| Q/H | 0.2669 | likely_benign | 0.2371 | benign | -0.849 | Destabilizing | 0.939 | D | 0.425 | neutral | N | 0.518628809 | None | None | I |
| Q/I | 0.6057 | likely_pathogenic | 0.5595 | ambiguous | 0.214 | Stabilizing | 0.953 | D | 0.541 | neutral | None | None | None | None | I |
| Q/K | 0.1254 | likely_benign | 0.1179 | benign | -0.058 | Destabilizing | 0.309 | N | 0.407 | neutral | N | 0.443205544 | None | None | I |
| Q/L | 0.3018 | likely_benign | 0.2741 | benign | 0.214 | Stabilizing | 0.684 | D | 0.539 | neutral | N | 0.49882954 | None | None | I |
| Q/M | 0.5252 | ambiguous | 0.486 | ambiguous | 0.819 | Stabilizing | 0.984 | D | 0.422 | neutral | None | None | None | None | I |
| Q/N | 0.3769 | ambiguous | 0.338 | benign | -0.448 | Destabilizing | 0.742 | D | 0.369 | neutral | None | None | None | None | I |
| Q/P | 0.8256 | likely_pathogenic | 0.7976 | pathogenic | 0.046 | Stabilizing | 0.939 | D | 0.445 | neutral | N | 0.483592869 | None | None | I |
| Q/R | 0.127 | likely_benign | 0.1187 | benign | 0.036 | Stabilizing | 0.684 | D | 0.451 | neutral | N | 0.45850307 | None | None | I |
| Q/S | 0.2941 | likely_benign | 0.2643 | benign | -0.436 | Destabilizing | 0.045 | N | 0.195 | neutral | None | None | None | None | I |
| Q/T | 0.2361 | likely_benign | 0.2126 | benign | -0.263 | Destabilizing | 0.59 | D | 0.457 | neutral | None | None | None | None | I |
| Q/V | 0.4229 | ambiguous | 0.3743 | ambiguous | 0.046 | Stabilizing | 0.854 | D | 0.501 | neutral | None | None | None | None | I |
| Q/W | 0.7027 | likely_pathogenic | 0.6509 | pathogenic | -0.499 | Destabilizing | 0.996 | D | 0.573 | neutral | None | None | None | None | I |
| Q/Y | 0.6339 | likely_pathogenic | 0.5764 | pathogenic | -0.215 | Destabilizing | 0.984 | D | 0.441 | 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.