Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26873 | 80842;80843;80844 | chr2:178565515;178565514;178565513 | chr2:179430242;179430241;179430240 |
| N2AB | 25232 | 75919;75920;75921 | chr2:178565515;178565514;178565513 | chr2:179430242;179430241;179430240 |
| N2A | 24305 | 73138;73139;73140 | chr2:178565515;178565514;178565513 | chr2:179430242;179430241;179430240 |
| N2B | 17808 | 53647;53648;53649 | chr2:178565515;178565514;178565513 | chr2:179430242;179430241;179430240 |
| Novex-1 | 17933 | 54022;54023;54024 | chr2:178565515;178565514;178565513 | chr2:179430242;179430241;179430240 |
| Novex-2 | 18000 | 54223;54224;54225 | chr2:178565515;178565514;178565513 | chr2:179430242;179430241;179430240 |
| 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/P | None | None | 1.0 | N | 0.771 | 0.66 | 0.521070178209 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 1.31251E-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 | 0.663 | likely_pathogenic | 0.716 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/D | 0.9964 | likely_pathogenic | 0.9979 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.529290672 | None | None | N |
| A/E | 0.9874 | likely_pathogenic | 0.992 | pathogenic | -2.604 | Highly Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/F | 0.9577 | likely_pathogenic | 0.9734 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| A/G | 0.5736 | likely_pathogenic | 0.6437 | pathogenic | -1.647 | Destabilizing | 0.997 | D | 0.528 | neutral | N | 0.517934366 | None | None | N |
| A/H | 0.9938 | likely_pathogenic | 0.9958 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| A/I | 0.6095 | likely_pathogenic | 0.7076 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/K | 0.995 | likely_pathogenic | 0.9971 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/L | 0.6699 | likely_pathogenic | 0.7404 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.7906 | likely_pathogenic | 0.8618 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/N | 0.9773 | likely_pathogenic | 0.9853 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/P | 0.7618 | likely_pathogenic | 0.8043 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.490929341 | None | None | N |
| A/Q | 0.9711 | likely_pathogenic | 0.98 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/R | 0.9833 | likely_pathogenic | 0.9875 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/S | 0.3432 | ambiguous | 0.3931 | ambiguous | -2.078 | Highly Destabilizing | 1.0 | D | 0.588 | neutral | D | 0.527769734 | None | None | N |
| A/T | 0.428 | ambiguous | 0.5605 | ambiguous | -1.86 | Destabilizing | 1.0 | D | 0.731 | deleterious | N | 0.488941105 | None | None | N |
| A/V | 0.3378 | likely_benign | 0.4525 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.665 | prob.neutral | N | 0.494399582 | None | None | N |
| A/W | 0.9963 | likely_pathogenic | 0.9976 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.691 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9897 | likely_pathogenic | 0.9935 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.773 | 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.