Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35964 | 108115;108116;108117 | chr2:178527098;178527097;178527096 | chr2:179391825;179391824;179391823 |
| N2AB | 34323 | 103192;103193;103194 | chr2:178527098;178527097;178527096 | chr2:179391825;179391824;179391823 |
| N2A | 33396 | 100411;100412;100413 | chr2:178527098;178527097;178527096 | chr2:179391825;179391824;179391823 |
| N2B | 26899 | 80920;80921;80922 | chr2:178527098;178527097;178527096 | chr2:179391825;179391824;179391823 |
| Novex-1 | 27024 | 81295;81296;81297 | chr2:178527098;178527097;178527096 | chr2:179391825;179391824;179391823 |
| Novex-2 | 27091 | 81496;81497;81498 | chr2:178527098;178527097;178527096 | chr2:179391825;179391824;179391823 |
| 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/R | None | None | 0.042 | N | 0.204 | 0.102 | 0.0716867268079 | gnomAD-4.0.0 | 2.05245E-06 | None | None | None | -0.48(OBSL1) -0.448(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69821E-06 | 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 | 0.2304 | likely_benign | 0.2329 | benign | -0.143 | Destabilizing | 0.025 | N | 0.197 | neutral | None | None | None | -0.128(OBSL1) -0.21(OBSCN) | N |
| Q/C | 0.7906 | likely_pathogenic | 0.7901 | pathogenic | 0.076 | Stabilizing | 0.958 | D | 0.183 | neutral | None | None | None | -0.334(OBSL1) 0.115(OBSCN) | N |
| Q/D | 0.3288 | likely_benign | 0.3405 | ambiguous | -0.037 | Destabilizing | 0.025 | N | 0.185 | neutral | None | None | None | -0.695(OBSL1) -0.113(OBSCN) | N |
| Q/E | 0.0682 | likely_benign | 0.0701 | benign | -0.087 | Destabilizing | None | N | 0.097 | neutral | N | 0.352211741 | None | -0.796(OBSL1) -0.171(OBSCN) | N |
| Q/F | 0.8051 | likely_pathogenic | 0.7951 | pathogenic | -0.483 | Destabilizing | 0.859 | D | 0.259 | neutral | None | None | None | -0.295(OBSL1) -0.34(OBSCN) | N |
| Q/G | 0.2696 | likely_benign | 0.269 | benign | -0.279 | Destabilizing | 0.055 | N | 0.2 | neutral | None | None | None | -0.143(OBSL1) -0.238(OBSCN) | N |
| Q/H | 0.2998 | likely_benign | 0.2933 | benign | -0.134 | Destabilizing | 0.602 | D | 0.184 | neutral | N | 0.446242196 | None | 0.066(OBSL1) 0.14(OBSCN) | N |
| Q/I | 0.4854 | ambiguous | 0.4833 | ambiguous | 0.117 | Stabilizing | 0.22 | N | 0.335 | neutral | None | None | None | -0.156(OBSL1) -0.147(OBSCN) | N |
| Q/K | 0.0898 | likely_benign | 0.0875 | benign | 0.081 | Stabilizing | None | N | 0.093 | neutral | N | 0.431195386 | None | -0.452(OBSL1) -0.4(OBSCN) | N |
| Q/L | 0.1993 | likely_benign | 0.1913 | benign | 0.117 | Stabilizing | 0.081 | N | 0.191 | neutral | N | 0.426040282 | None | -0.156(OBSL1) -0.147(OBSCN) | N |
| Q/M | 0.4327 | ambiguous | 0.4317 | ambiguous | 0.272 | Stabilizing | 0.859 | D | 0.191 | neutral | None | None | None | 0.067(OBSL1) 0.569(OBSCN) | N |
| Q/N | 0.2689 | likely_benign | 0.2738 | benign | -0.224 | Destabilizing | None | N | 0.134 | neutral | None | None | None | -0.049(OBSL1) -0.68(OBSCN) | N |
| Q/P | 0.2475 | likely_benign | 0.2663 | benign | 0.056 | Stabilizing | 0.301 | N | 0.299 | neutral | N | 0.483683077 | None | -0.134(OBSL1) -0.164(OBSCN) | N |
| Q/R | 0.1218 | likely_benign | 0.1176 | benign | 0.259 | Stabilizing | 0.042 | N | 0.204 | neutral | N | 0.440969663 | None | -0.48(OBSL1) -0.448(OBSCN) | N |
| Q/S | 0.2913 | likely_benign | 0.2823 | benign | -0.204 | Destabilizing | 0.025 | N | 0.179 | neutral | None | None | None | 0.001(OBSL1) -0.566(OBSCN) | N |
| Q/T | 0.2367 | likely_benign | 0.2481 | benign | -0.115 | Destabilizing | 0.002 | N | 0.117 | neutral | None | None | None | -0.022(OBSL1) -0.524(OBSCN) | N |
| Q/V | 0.3389 | likely_benign | 0.3409 | ambiguous | 0.056 | Stabilizing | 0.104 | N | 0.197 | neutral | None | None | None | -0.134(OBSL1) -0.164(OBSCN) | N |
| Q/W | 0.6283 | likely_pathogenic | 0.6033 | pathogenic | -0.513 | Destabilizing | 0.958 | D | 0.203 | neutral | None | None | None | -0.551(OBSL1) -0.39(OBSCN) | N |
| Q/Y | 0.6093 | likely_pathogenic | 0.5879 | pathogenic | -0.235 | Destabilizing | 0.859 | D | 0.285 | neutral | None | None | None | -0.14(OBSL1) -0.208(OBSCN) | 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.