Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24618 | 74077;74078;74079 | chr2:178572280;178572279;178572278 | chr2:179437007;179437006;179437005 |
| N2AB | 22977 | 69154;69155;69156 | chr2:178572280;178572279;178572278 | chr2:179437007;179437006;179437005 |
| N2A | 22050 | 66373;66374;66375 | chr2:178572280;178572279;178572278 | chr2:179437007;179437006;179437005 |
| N2B | 15553 | 46882;46883;46884 | chr2:178572280;178572279;178572278 | chr2:179437007;179437006;179437005 |
| Novex-1 | 15678 | 47257;47258;47259 | chr2:178572280;178572279;178572278 | chr2:179437007;179437006;179437005 |
| Novex-2 | 15745 | 47458;47459;47460 | chr2:178572280;178572279;178572278 | chr2:179437007;179437006;179437005 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 1.0 | N | 0.852 | 0.399 | 0.423360453849 | gnomAD-4.0.0 | 1.59285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43377E-05 | 0 |
| L/R | None | None | 0.999 | N | 0.849 | 0.352 | 0.406394481233 | gnomAD-4.0.0 | 1.59285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43377E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2033 | likely_benign | 0.2025 | benign | -1.879 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| L/C | 0.5754 | likely_pathogenic | 0.5704 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| L/D | 0.7428 | likely_pathogenic | 0.7237 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/E | 0.4218 | ambiguous | 0.4335 | ambiguous | -1.6 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/F | 0.1928 | likely_benign | 0.1752 | benign | -1.425 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.467135141 | None | None | N |
| L/G | 0.4115 | ambiguous | 0.3924 | ambiguous | -2.211 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/H | 0.2766 | likely_benign | 0.2911 | benign | -1.53 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.512704836 | None | None | N |
| L/I | 0.2677 | likely_benign | 0.2563 | benign | -1.024 | Destabilizing | 0.973 | D | 0.501 | neutral | N | 0.467135141 | None | None | N |
| L/K | 0.4111 | ambiguous | 0.415 | ambiguous | -1.26 | Destabilizing | 0.994 | D | 0.829 | deleterious | None | None | None | None | N |
| L/M | 0.1157 | likely_benign | 0.1087 | benign | -0.604 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| L/N | 0.3836 | ambiguous | 0.3813 | ambiguous | -0.99 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/P | 0.8901 | likely_pathogenic | 0.8788 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.48220857 | None | None | N |
| L/Q | 0.1282 | likely_benign | 0.1376 | benign | -1.205 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| L/R | 0.3612 | ambiguous | 0.3733 | ambiguous | -0.631 | Destabilizing | 0.999 | D | 0.849 | deleterious | N | 0.493772358 | None | None | N |
| L/S | 0.153 | likely_benign | 0.1494 | benign | -1.549 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| L/T | 0.2655 | likely_benign | 0.2611 | benign | -1.446 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| L/V | 0.1926 | likely_benign | 0.1882 | benign | -1.28 | Destabilizing | 0.98 | D | 0.553 | neutral | N | 0.512704836 | None | None | N |
| L/W | 0.4549 | ambiguous | 0.3842 | ambiguous | -1.543 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| L/Y | 0.3785 | ambiguous | 0.3574 | ambiguous | -1.337 | Destabilizing | 0.996 | D | 0.82 | deleterious | 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.