Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30280 | 91063;91064;91065 | chr2:178552062;178552061;178552060 | chr2:179416789;179416788;179416787 |
| N2AB | 28639 | 86140;86141;86142 | chr2:178552062;178552061;178552060 | chr2:179416789;179416788;179416787 |
| N2A | 27712 | 83359;83360;83361 | chr2:178552062;178552061;178552060 | chr2:179416789;179416788;179416787 |
| N2B | 21215 | 63868;63869;63870 | chr2:178552062;178552061;178552060 | chr2:179416789;179416788;179416787 |
| Novex-1 | 21340 | 64243;64244;64245 | chr2:178552062;178552061;178552060 | chr2:179416789;179416788;179416787 |
| Novex-2 | 21407 | 64444;64445;64446 | chr2:178552062;178552061;178552060 | chr2:179416789;179416788;179416787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs752021114  |
-0.79 | 0.016 | N | 0.127 | 0.049 | 0.206339911435 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs752021114 |
-0.79 | 0.016 | N | 0.127 | 0.049 | 0.206339911435 | gnomAD-4.0.0 | 1.59152E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77346E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.004 | N | 0.158 | 0.059 | 0.224531998449 | gnomAD-4.0.0 | 1.59152E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85855E-06 | 0 | 0 |
| A/V | rs868306395 |
None | 0.007 | N | 0.07 | 0.103 | 0.297718772494 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6067 | likely_pathogenic | 0.574 | pathogenic | -0.782 | Destabilizing | 0.992 | D | 0.353 | neutral | None | None | None | None | N |
| A/D | 0.8005 | likely_pathogenic | 0.7467 | pathogenic | -0.62 | Destabilizing | 0.379 | N | 0.335 | neutral | N | 0.511379471 | None | None | N |
| A/E | 0.6566 | likely_pathogenic | 0.5788 | pathogenic | -0.705 | Destabilizing | 0.005 | N | 0.15 | neutral | None | None | None | None | N |
| A/F | 0.5626 | ambiguous | 0.5297 | ambiguous | -0.867 | Destabilizing | 0.92 | D | 0.354 | neutral | None | None | None | None | N |
| A/G | 0.2483 | likely_benign | 0.2041 | benign | -0.739 | Destabilizing | 0.379 | N | 0.171 | neutral | N | 0.470216696 | None | None | N |
| A/H | 0.76 | likely_pathogenic | 0.7117 | pathogenic | -0.771 | Destabilizing | 0.977 | D | 0.316 | neutral | None | None | None | None | N |
| A/I | 0.2823 | likely_benign | 0.2994 | benign | -0.31 | Destabilizing | 0.021 | N | 0.16 | neutral | None | None | None | None | N |
| A/K | 0.806 | likely_pathogenic | 0.7518 | pathogenic | -0.943 | Destabilizing | 0.447 | N | 0.27 | neutral | None | None | None | None | N |
| A/L | 0.2206 | likely_benign | 0.2119 | benign | -0.31 | Destabilizing | 0.25 | N | 0.294 | neutral | None | None | None | None | N |
| A/M | 0.2848 | likely_benign | 0.2683 | benign | -0.402 | Destabilizing | 0.92 | D | 0.35 | neutral | None | None | None | None | N |
| A/N | 0.4434 | ambiguous | 0.3967 | ambiguous | -0.647 | Destabilizing | 0.739 | D | 0.355 | neutral | None | None | None | None | N |
| A/P | 0.2983 | likely_benign | 0.3054 | benign | -0.359 | Destabilizing | 0.896 | D | 0.391 | neutral | N | 0.502567987 | None | None | N |
| A/Q | 0.5332 | ambiguous | 0.4716 | ambiguous | -0.835 | Destabilizing | 0.739 | D | 0.389 | neutral | None | None | None | None | N |
| A/R | 0.7615 | likely_pathogenic | 0.7164 | pathogenic | -0.535 | Destabilizing | 0.85 | D | 0.385 | neutral | None | None | None | None | N |
| A/S | 0.1195 | likely_benign | 0.1037 | benign | -0.922 | Destabilizing | 0.016 | N | 0.127 | neutral | N | 0.497314096 | None | None | N |
| A/T | 0.1153 | likely_benign | 0.1057 | benign | -0.912 | Destabilizing | 0.004 | N | 0.158 | neutral | N | 0.498524817 | None | None | N |
| A/V | 0.1451 | likely_benign | 0.153 | benign | -0.359 | Destabilizing | 0.007 | N | 0.07 | neutral | N | 0.519076235 | None | None | N |
| A/W | 0.8969 | likely_pathogenic | 0.8851 | pathogenic | -1.108 | Destabilizing | 0.992 | D | 0.413 | neutral | None | None | None | None | N |
| A/Y | 0.7337 | likely_pathogenic | 0.7057 | pathogenic | -0.728 | Destabilizing | 0.92 | D | 0.345 | neutral | None | None | None | None | 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.