Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35942 | 108049;108050;108051 | chr2:178527164;178527163;178527162 | chr2:179391891;179391890;179391889 |
| N2AB | 34301 | 103126;103127;103128 | chr2:178527164;178527163;178527162 | chr2:179391891;179391890;179391889 |
| N2A | 33374 | 100345;100346;100347 | chr2:178527164;178527163;178527162 | chr2:179391891;179391890;179391889 |
| N2B | 26877 | 80854;80855;80856 | chr2:178527164;178527163;178527162 | chr2:179391891;179391890;179391889 |
| Novex-1 | 27002 | 81229;81230;81231 | chr2:178527164;178527163;178527162 | chr2:179391891;179391890;179391889 |
| Novex-2 | 27069 | 81430;81431;81432 | chr2:178527164;178527163;178527162 | chr2:179391891;179391890;179391889 |
| 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/P | rs2154129874  |
None | 0.106 | N | 0.327 | 0.293 | 0.33835085245 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.331(OBSL1) -0.335(OBSCN) | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs2154129874 |
None | 0.106 | N | 0.327 | 0.293 | 0.33835085245 | gnomAD-4.0.0 | 6.56461E-06 | None | None | None | -0.331(OBSL1) -0.335(OBSCN) | N | None | 0 | 0 | None | 0 | 1.93199E-04 | 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 | 0.1414 | likely_benign | 0.1537 | benign | -0.067 | Destabilizing | 0.031 | N | 0.289 | neutral | None | None | None | -0.307(OBSL1) -0.344(OBSCN) | N |
| Q/C | 0.5727 | likely_pathogenic | 0.6195 | pathogenic | -0.025 | Destabilizing | 0.864 | D | 0.317 | neutral | None | None | None | -0.306(OBSL1) -0.105(OBSCN) | N |
| Q/D | 0.1781 | likely_benign | 0.1953 | benign | 0.056 | Stabilizing | None | N | 0.111 | neutral | None | None | None | -0.15(OBSL1) -0.049(OBSCN) | N |
| Q/E | 0.0677 | likely_benign | 0.0683 | benign | 0.018 | Stabilizing | None | N | 0.148 | neutral | N | 0.435818212 | None | -0.25(OBSL1) -0.116(OBSCN) | N |
| Q/F | 0.5863 | likely_pathogenic | 0.6292 | pathogenic | -0.395 | Destabilizing | 0.214 | N | 0.349 | neutral | None | None | None | -0.805(OBSL1) -0.723(OBSCN) | N |
| Q/G | 0.1606 | likely_benign | 0.1689 | benign | -0.207 | Destabilizing | 0.031 | N | 0.241 | neutral | None | None | None | -0.302(OBSL1) -0.35(OBSCN) | N |
| Q/H | 0.1688 | likely_benign | 0.18 | benign | 0.002 | Stabilizing | None | N | 0.135 | neutral | N | 0.47597411 | None | 0.066(OBSL1) 0.005(OBSCN) | N |
| Q/I | 0.3294 | likely_benign | 0.3533 | ambiguous | 0.205 | Stabilizing | 0.356 | N | 0.387 | neutral | None | None | None | -0.35(OBSL1) -0.335(OBSCN) | N |
| Q/K | 0.0771 | likely_benign | 0.0792 | benign | 0.103 | Stabilizing | 0.024 | N | 0.234 | neutral | N | 0.435799569 | None | -0.631(OBSL1) -0.532(OBSCN) | N |
| Q/L | 0.1298 | likely_benign | 0.1374 | benign | 0.205 | Stabilizing | 0.055 | N | 0.306 | neutral | N | 0.470856292 | None | -0.35(OBSL1) -0.335(OBSCN) | N |
| Q/M | 0.3006 | likely_benign | 0.3211 | benign | 0.182 | Stabilizing | 0.628 | D | 0.239 | neutral | None | None | None | 0.39(OBSL1) 0.495(OBSCN) | N |
| Q/N | 0.1644 | likely_benign | 0.1841 | benign | -0.242 | Destabilizing | 0.016 | N | 0.15 | neutral | None | None | None | -0.711(OBSL1) -0.762(OBSCN) | N |
| Q/P | 0.0909 | likely_benign | 0.093 | benign | 0.141 | Stabilizing | 0.106 | N | 0.327 | neutral | N | 0.466642551 | None | -0.331(OBSL1) -0.335(OBSCN) | N |
| Q/R | 0.0935 | likely_benign | 0.0951 | benign | 0.274 | Stabilizing | 0.055 | N | 0.171 | neutral | N | 0.449595586 | None | -0.413(OBSL1) -0.38(OBSCN) | N |
| Q/S | 0.1655 | likely_benign | 0.1827 | benign | -0.216 | Destabilizing | 0.016 | N | 0.196 | neutral | None | None | None | -0.675(OBSL1) -0.742(OBSCN) | N |
| Q/T | 0.1381 | likely_benign | 0.1515 | benign | -0.113 | Destabilizing | 0.072 | N | 0.259 | neutral | None | None | None | -0.703(OBSL1) -0.736(OBSCN) | N |
| Q/V | 0.2289 | likely_benign | 0.2452 | benign | 0.141 | Stabilizing | 0.136 | N | 0.346 | neutral | None | None | None | -0.331(OBSL1) -0.335(OBSCN) | N |
| Q/W | 0.4172 | ambiguous | 0.4393 | ambiguous | -0.443 | Destabilizing | 0.864 | D | 0.311 | neutral | None | None | None | -1.01(OBSL1) -0.846(OBSCN) | N |
| Q/Y | 0.3696 | ambiguous | 0.4029 | ambiguous | -0.148 | Destabilizing | 0.12 | N | 0.347 | neutral | None | None | None | -0.714(OBSL1) -0.638(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.