Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35905 | 107938;107939;107940 | chr2:178527275;178527274;178527273 | chr2:179392002;179392001;179392000 |
| N2AB | 34264 | 103015;103016;103017 | chr2:178527275;178527274;178527273 | chr2:179392002;179392001;179392000 |
| N2A | 33337 | 100234;100235;100236 | chr2:178527275;178527274;178527273 | chr2:179392002;179392001;179392000 |
| N2B | 26840 | 80743;80744;80745 | chr2:178527275;178527274;178527273 | chr2:179392002;179392001;179392000 |
| Novex-1 | 26965 | 81118;81119;81120 | chr2:178527275;178527274;178527273 | chr2:179392002;179392001;179392000 |
| Novex-2 | 27032 | 81319;81320;81321 | chr2:178527275;178527274;178527273 | chr2:179392002;179392001;179392000 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1558955826  |
None | 0.998 | N | 0.764 | 0.444 | 0.1749357433 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | -0.422(OBSL1) -0.723(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| D/G | rs1558955826 |
None | 0.998 | N | 0.764 | 0.444 | 0.1749357433 | gnomAD-4.0.0 | 1.60915E-06 | None | None | None | -0.422(OBSL1) -0.723(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6362 | likely_pathogenic | 0.5379 | ambiguous | -0.378 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.457595126 | None | -0.25(OBSL1) -0.554(OBSCN) | N |
| D/C | 0.9562 | likely_pathogenic | 0.928 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | -0.425(OBSL1) -0.624(OBSCN) | N |
| D/E | 0.56 | ambiguous | 0.4569 | ambiguous | -0.518 | Destabilizing | 0.767 | D | 0.323 | neutral | N | 0.49886596 | None | -0.584(OBSL1) -0.737(OBSCN) | N |
| D/F | 0.9545 | likely_pathogenic | 0.9152 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | -0.295(OBSL1) -0.651(OBSCN) | N |
| D/G | 0.5879 | likely_pathogenic | 0.477 | ambiguous | -0.641 | Destabilizing | 0.998 | D | 0.764 | deleterious | N | 0.459797172 | None | -0.422(OBSL1) -0.723(OBSCN) | N |
| D/H | 0.7393 | likely_pathogenic | 0.617 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.459343099 | None | 0.735(OBSL1) 0.521(OBSCN) | N |
| D/I | 0.9106 | likely_pathogenic | 0.845 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | 0.225(OBSL1) -0.088(OBSCN) | N |
| D/K | 0.8847 | likely_pathogenic | 0.8029 | pathogenic | -0.102 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | 0.1(OBSL1) -0.207(OBSCN) | N |
| D/L | 0.9125 | likely_pathogenic | 0.8521 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | 0.225(OBSL1) -0.088(OBSCN) | N |
| D/M | 0.9639 | likely_pathogenic | 0.9396 | pathogenic | 0.536 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | 0.916(OBSL1) 0.703(OBSCN) | N |
| D/N | 0.2289 | likely_benign | 0.1881 | benign | -0.39 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.466772184 | None | -1.325(OBSL1) -1.315(OBSCN) | N |
| D/P | 0.9547 | likely_pathogenic | 0.9458 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | 0.077(OBSL1) -0.234(OBSCN) | N |
| D/Q | 0.8411 | likely_pathogenic | 0.7451 | pathogenic | -0.32 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | -0.812(OBSL1) -0.903(OBSCN) | N |
| D/R | 0.8785 | likely_pathogenic | 0.7906 | pathogenic | 0.079 | Stabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | 0.108(OBSL1) -0.081(OBSCN) | N |
| D/S | 0.372 | ambiguous | 0.2965 | benign | -0.545 | Destabilizing | 0.997 | D | 0.633 | neutral | None | None | None | -1.144(OBSL1) -1.319(OBSCN) | N |
| D/T | 0.7232 | likely_pathogenic | 0.6217 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | -0.964(OBSL1) -1.149(OBSCN) | N |
| D/V | 0.7793 | likely_pathogenic | 0.6644 | pathogenic | 0.086 | Stabilizing | 0.999 | D | 0.89 | deleterious | N | 0.497673881 | None | 0.077(OBSL1) -0.234(OBSCN) | N |
| D/W | 0.9908 | likely_pathogenic | 0.9833 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -0.525(OBSL1) -0.847(OBSCN) | N |
| D/Y | 0.7325 | likely_pathogenic | 0.5912 | pathogenic | -0.006 | Destabilizing | 1.0 | D | 0.897 | deleterious | N | 0.487816155 | None | -0.265(OBSL1) -0.557(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.