Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31019 | 93280;93281;93282 | chr2:178548571;178548570;178548569 | chr2:179413298;179413297;179413296 |
| N2AB | 29378 | 88357;88358;88359 | chr2:178548571;178548570;178548569 | chr2:179413298;179413297;179413296 |
| N2A | 28451 | 85576;85577;85578 | chr2:178548571;178548570;178548569 | chr2:179413298;179413297;179413296 |
| N2B | 21954 | 66085;66086;66087 | chr2:178548571;178548570;178548569 | chr2:179413298;179413297;179413296 |
| Novex-1 | 22079 | 66460;66461;66462 | chr2:178548571;178548570;178548569 | chr2:179413298;179413297;179413296 |
| Novex-2 | 22146 | 66661;66662;66663 | chr2:178548571;178548570;178548569 | chr2:179413298;179413297;179413296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs772541126  |
None | 0.999 | D | 0.851 | 0.464 | None | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| P/Q | rs772541126 |
-1.26 | 0.999 | D | 0.843 | 0.453 | 0.488897681448 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/Q | rs772541126 |
-1.26 | 0.999 | D | 0.843 | 0.453 | 0.488897681448 | gnomAD-4.0.0 | 3.1822E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71608E-06 | 0 | 0 |
| P/S | None | None | 0.999 | N | 0.796 | 0.377 | 0.377799810692 | gnomAD-4.0.0 | 1.59112E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88246E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0896 | likely_benign | 0.0822 | benign | -1.56 | Destabilizing | 0.998 | D | 0.764 | deleterious | N | 0.453195172 | None | None | I |
| P/C | 0.48 | ambiguous | 0.4435 | ambiguous | -1.016 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| P/D | 0.8038 | likely_pathogenic | 0.7795 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| P/E | 0.4915 | ambiguous | 0.4727 | ambiguous | -1.594 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | I |
| P/F | 0.5417 | ambiguous | 0.509 | ambiguous | -1.28 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| P/G | 0.5037 | ambiguous | 0.4475 | ambiguous | -1.852 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| P/H | 0.3096 | likely_benign | 0.2889 | benign | -1.371 | Destabilizing | 0.844 | D | 0.574 | neutral | None | None | None | None | I |
| P/I | 0.3082 | likely_benign | 0.2816 | benign | -0.861 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| P/K | 0.3816 | ambiguous | 0.3499 | ambiguous | -1.252 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| P/L | 0.1611 | likely_benign | 0.1467 | benign | -0.861 | Destabilizing | 0.999 | D | 0.851 | deleterious | D | 0.529737382 | None | None | I |
| P/M | 0.3081 | likely_benign | 0.273 | benign | -0.631 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| P/N | 0.5688 | likely_pathogenic | 0.5243 | ambiguous | -1.002 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | I |
| P/Q | 0.2147 | likely_benign | 0.1996 | benign | -1.24 | Destabilizing | 0.999 | D | 0.843 | deleterious | D | 0.527962955 | None | None | I |
| P/R | 0.2647 | likely_benign | 0.2466 | benign | -0.679 | Destabilizing | 0.999 | D | 0.854 | deleterious | D | 0.523696994 | None | None | I |
| P/S | 0.1882 | likely_benign | 0.1661 | benign | -1.481 | Destabilizing | 0.999 | D | 0.796 | deleterious | N | 0.492323876 | None | None | I |
| P/T | 0.19 | likely_benign | 0.1699 | benign | -1.406 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.529230403 | None | None | I |
| P/V | 0.225 | likely_benign | 0.2093 | benign | -1.06 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| P/W | 0.8043 | likely_pathogenic | 0.7874 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| P/Y | 0.6011 | likely_pathogenic | 0.5588 | ambiguous | -1.168 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | I |
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.