Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8523 | 25792;25793;25794 | chr2:178717167;178717166;178717165 | chr2:179581894;179581893;179581892 |
| N2AB | 8206 | 24841;24842;24843 | chr2:178717167;178717166;178717165 | chr2:179581894;179581893;179581892 |
| N2A | 7279 | 22060;22061;22062 | chr2:178717167;178717166;178717165 | chr2:179581894;179581893;179581892 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/T | rs1288397933  |
-0.663 | 0.021 | N | 0.36 | 0.096 | 0.269111216191 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | rs1288397933 |
-0.663 | 0.021 | N | 0.36 | 0.096 | 0.269111216191 | gnomAD-4.0.0 | 1.23177E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52928E-05 | 0 | 1.65722E-05 |
| A/V | rs1227310783 |
-0.22 | 0.77 | N | 0.421 | 0.225 | 0.432154444652 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/V | rs1227310783 |
-0.22 | 0.77 | N | 0.421 | 0.225 | 0.432154444652 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs1227310783 |
-0.22 | 0.77 | N | 0.421 | 0.225 | 0.432154444652 | gnomAD-4.0.0 | 3.09892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23859E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5332 | ambiguous | 0.5281 | ambiguous | -0.881 | Destabilizing | 0.996 | D | 0.399 | neutral | None | None | None | None | N |
| A/D | 0.3993 | ambiguous | 0.4352 | ambiguous | -0.487 | Destabilizing | 0.545 | D | 0.506 | neutral | N | 0.492747129 | None | None | N |
| A/E | 0.3133 | likely_benign | 0.3299 | benign | -0.574 | Destabilizing | 0.056 | N | 0.295 | neutral | None | None | None | None | N |
| A/F | 0.3314 | likely_benign | 0.367 | ambiguous | -1.035 | Destabilizing | 0.996 | D | 0.571 | neutral | None | None | None | None | N |
| A/G | 0.1304 | likely_benign | 0.1289 | benign | -0.876 | Destabilizing | 0.046 | N | 0.453 | neutral | N | 0.513743065 | None | None | N |
| A/H | 0.5334 | ambiguous | 0.5499 | ambiguous | -0.918 | Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| A/I | 0.238 | likely_benign | 0.2717 | benign | -0.396 | Destabilizing | 0.977 | D | 0.475 | neutral | None | None | None | None | N |
| A/K | 0.5415 | ambiguous | 0.5675 | pathogenic | -0.843 | Destabilizing | 0.922 | D | 0.455 | neutral | None | None | None | None | N |
| A/L | 0.1949 | likely_benign | 0.2151 | benign | -0.396 | Destabilizing | 0.922 | D | 0.461 | neutral | None | None | None | None | N |
| A/M | 0.2048 | likely_benign | 0.2224 | benign | -0.354 | Destabilizing | 0.999 | D | 0.475 | neutral | None | None | None | None | N |
| A/N | 0.2961 | likely_benign | 0.3153 | benign | -0.538 | Destabilizing | 0.271 | N | 0.533 | neutral | None | None | None | None | N |
| A/P | 0.7377 | likely_pathogenic | 0.7504 | pathogenic | -0.457 | Destabilizing | 0.944 | D | 0.475 | neutral | D | 0.539604382 | None | None | N |
| A/Q | 0.3796 | ambiguous | 0.3998 | ambiguous | -0.749 | Destabilizing | 0.977 | D | 0.475 | neutral | None | None | None | None | N |
| A/R | 0.4602 | ambiguous | 0.4798 | ambiguous | -0.467 | Destabilizing | 0.977 | D | 0.477 | neutral | None | None | None | None | N |
| A/S | 0.0855 | likely_benign | 0.0832 | benign | -0.913 | Destabilizing | 0.001 | N | 0.136 | neutral | N | 0.425582575 | None | None | N |
| A/T | 0.0821 | likely_benign | 0.0851 | benign | -0.901 | Destabilizing | 0.021 | N | 0.36 | neutral | N | 0.504160789 | None | None | N |
| A/V | 0.1319 | likely_benign | 0.1488 | benign | -0.457 | Destabilizing | 0.77 | D | 0.421 | neutral | N | 0.486252669 | None | None | N |
| A/W | 0.7504 | likely_pathogenic | 0.7695 | pathogenic | -1.242 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| A/Y | 0.498 | ambiguous | 0.5249 | ambiguous | -0.859 | Destabilizing | 0.996 | D | 0.571 | 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.