Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35940 | 108043;108044;108045 | chr2:178527170;178527169;178527168 | chr2:179391897;179391896;179391895 |
| N2AB | 34299 | 103120;103121;103122 | chr2:178527170;178527169;178527168 | chr2:179391897;179391896;179391895 |
| N2A | 33372 | 100339;100340;100341 | chr2:178527170;178527169;178527168 | chr2:179391897;179391896;179391895 |
| N2B | 26875 | 80848;80849;80850 | chr2:178527170;178527169;178527168 | chr2:179391897;179391896;179391895 |
| Novex-1 | 27000 | 81223;81224;81225 | chr2:178527170;178527169;178527168 | chr2:179391897;179391896;179391895 |
| Novex-2 | 27067 | 81424;81425;81426 | chr2:178527170;178527169;178527168 | chr2:179391897;179391896;179391895 |
| 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/H | None | None | 0.927 | N | 0.285 | 0.128 | 0.119812018005 | gnomAD-4.0.0 | 1.5909E-06 | None | None | None | -1.205(OBSL1) 0.247(OBSCN) | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | 0.002 | N | 0.22 | 0.135 | 0.0666544352282 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -2.032(OBSL1) -0.23(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.1528 | likely_benign | 0.1574 | benign | -0.09 | Destabilizing | 0.176 | N | 0.327 | neutral | None | None | None | -1.695(OBSL1) -0.156(OBSCN) | N |
| Q/C | 0.5446 | ambiguous | 0.5541 | ambiguous | -0.118 | Destabilizing | 0.995 | D | 0.249 | neutral | None | None | None | -1.577(OBSL1) 0.285(OBSCN) | N |
| Q/D | 0.1781 | likely_benign | 0.187 | benign | -0.184 | Destabilizing | 0.329 | N | 0.331 | neutral | None | None | None | -1.043(OBSL1) -0.014(OBSCN) | N |
| Q/E | 0.0608 | likely_benign | 0.06 | benign | -0.244 | Destabilizing | 0.002 | N | 0.222 | neutral | N | 0.417476727 | None | -1.149(OBSL1) -0.06(OBSCN) | N |
| Q/F | 0.5965 | likely_pathogenic | 0.6015 | pathogenic | -0.527 | Destabilizing | 0.981 | D | 0.288 | neutral | None | None | None | -1.555(OBSL1) -0.258(OBSCN) | N |
| Q/G | 0.1473 | likely_benign | 0.1541 | benign | -0.179 | Destabilizing | 0.001 | N | 0.209 | neutral | None | None | None | -1.651(OBSL1) -0.195(OBSCN) | N |
| Q/H | 0.1614 | likely_benign | 0.1637 | benign | -0.007 | Destabilizing | 0.927 | D | 0.285 | neutral | N | 0.46242237 | None | -1.205(OBSL1) 0.247(OBSCN) | N |
| Q/I | 0.3291 | likely_benign | 0.3265 | benign | 0.046 | Stabilizing | 0.944 | D | 0.331 | neutral | None | None | None | -1.843(OBSL1) -0.063(OBSCN) | N |
| Q/K | 0.0736 | likely_benign | 0.0735 | benign | -0.015 | Destabilizing | 0.27 | N | 0.283 | neutral | N | 0.424210699 | None | -2.143(OBSL1) -0.099(OBSCN) | N |
| Q/L | 0.1279 | likely_benign | 0.1271 | benign | 0.046 | Stabilizing | 0.642 | D | 0.334 | neutral | N | 0.454784322 | None | -1.843(OBSL1) -0.063(OBSCN) | N |
| Q/M | 0.3187 | likely_benign | 0.3157 | benign | 0.062 | Stabilizing | 0.981 | D | 0.292 | neutral | None | None | None | -1.541(OBSL1) 0.569(OBSCN) | N |
| Q/N | 0.1861 | likely_benign | 0.1957 | benign | -0.262 | Destabilizing | 0.495 | N | 0.307 | neutral | None | None | None | -1.544(OBSL1) -0.514(OBSCN) | N |
| Q/P | 0.0979 | likely_benign | 0.1031 | benign | 0.023 | Stabilizing | 0.784 | D | 0.371 | neutral | N | 0.456861835 | None | -1.792(OBSL1) -0.089(OBSCN) | N |
| Q/R | 0.0799 | likely_benign | 0.0803 | benign | 0.169 | Stabilizing | 0.002 | N | 0.22 | neutral | N | 0.456688476 | None | -2.032(OBSL1) -0.23(OBSCN) | N |
| Q/S | 0.1556 | likely_benign | 0.1646 | benign | -0.237 | Destabilizing | 0.037 | N | 0.237 | neutral | None | None | None | -1.779(OBSL1) -0.366(OBSCN) | N |
| Q/T | 0.1377 | likely_benign | 0.1433 | benign | -0.18 | Destabilizing | 0.329 | N | 0.35 | neutral | None | None | None | -1.864(OBSL1) -0.307(OBSCN) | N |
| Q/V | 0.2214 | likely_benign | 0.2159 | benign | 0.023 | Stabilizing | 0.828 | D | 0.361 | neutral | None | None | None | -1.792(OBSL1) -0.089(OBSCN) | N |
| Q/W | 0.4056 | ambiguous | 0.4035 | ambiguous | -0.608 | Destabilizing | 0.995 | D | 0.275 | neutral | None | None | None | -1.386(OBSL1) -0.303(OBSCN) | N |
| Q/Y | 0.3917 | ambiguous | 0.4018 | ambiguous | -0.313 | Destabilizing | 0.981 | D | 0.312 | neutral | None | None | None | -1.42(OBSL1) -0.122(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.