Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30226 | 90901;90902;90903 | chr2:178552224;178552223;178552222 | chr2:179416951;179416950;179416949 |
| N2AB | 28585 | 85978;85979;85980 | chr2:178552224;178552223;178552222 | chr2:179416951;179416950;179416949 |
| N2A | 27658 | 83197;83198;83199 | chr2:178552224;178552223;178552222 | chr2:179416951;179416950;179416949 |
| N2B | 21161 | 63706;63707;63708 | chr2:178552224;178552223;178552222 | chr2:179416951;179416950;179416949 |
| Novex-1 | 21286 | 64081;64082;64083 | chr2:178552224;178552223;178552222 | chr2:179416951;179416950;179416949 |
| Novex-2 | 21353 | 64282;64283;64284 | chr2:178552224;178552223;178552222 | chr2:179416951;179416950;179416949 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1334122653  |
-0.495 | 1.0 | N | 0.725 | 0.489 | 0.389439708392 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1334122653 |
-0.495 | 1.0 | N | 0.725 | 0.489 | 0.389439708392 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 2.28864E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.117 | likely_benign | 0.1114 | benign | -0.582 | Destabilizing | 0.997 | D | 0.431 | neutral | N | 0.472267384 | None | None | N |
| S/C | 0.1937 | likely_benign | 0.1931 | benign | -0.618 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| S/D | 0.4723 | ambiguous | 0.4238 | ambiguous | -1.21 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| S/E | 0.6462 | likely_pathogenic | 0.6471 | pathogenic | -1.195 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| S/F | 0.5648 | likely_pathogenic | 0.5439 | ambiguous | -0.799 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| S/G | 0.0755 | likely_benign | 0.0754 | benign | -0.836 | Destabilizing | 0.999 | D | 0.429 | neutral | None | None | None | None | N |
| S/H | 0.6763 | likely_pathogenic | 0.6652 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| S/I | 0.6168 | likely_pathogenic | 0.5423 | ambiguous | -0.012 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| S/K | 0.8984 | likely_pathogenic | 0.8837 | pathogenic | -0.864 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| S/L | 0.2363 | likely_benign | 0.2123 | benign | -0.012 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.504957175 | None | None | N |
| S/M | 0.387 | ambiguous | 0.3633 | ambiguous | 0.318 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| S/N | 0.2528 | likely_benign | 0.2166 | benign | -1.015 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| S/P | 0.874 | likely_pathogenic | 0.847 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.504703686 | None | None | N |
| S/Q | 0.7048 | likely_pathogenic | 0.717 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| S/R | 0.8831 | likely_pathogenic | 0.8596 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/T | 0.1346 | likely_benign | 0.1211 | benign | -0.864 | Destabilizing | 0.999 | D | 0.405 | neutral | N | 0.468152781 | None | None | N |
| S/V | 0.4889 | ambiguous | 0.4356 | ambiguous | -0.168 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/W | 0.7307 | likely_pathogenic | 0.7086 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| S/Y | 0.5143 | ambiguous | 0.5135 | ambiguous | -0.548 | Destabilizing | 1.0 | D | 0.808 | 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.