Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23116 | 69571;69572;69573 | chr2:178576989;178576988;178576987 | chr2:179441716;179441715;179441714 |
| N2AB | 21475 | 64648;64649;64650 | chr2:178576989;178576988;178576987 | chr2:179441716;179441715;179441714 |
| N2A | 20548 | 61867;61868;61869 | chr2:178576989;178576988;178576987 | chr2:179441716;179441715;179441714 |
| N2B | 14051 | 42376;42377;42378 | chr2:178576989;178576988;178576987 | chr2:179441716;179441715;179441714 |
| Novex-1 | 14176 | 42751;42752;42753 | chr2:178576989;178576988;178576987 | chr2:179441716;179441715;179441714 |
| Novex-2 | 14243 | 42952;42953;42954 | chr2:178576989;178576988;178576987 | chr2:179441716;179441715;179441714 |
| 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/D | rs2154173466  |
None | 1.0 | D | 0.85 | 0.729 | 0.87120463873 | gnomAD-4.0.0 | 1.08029E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18125E-05 | 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 | 0.9183 | likely_pathogenic | 0.9105 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -3.121 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.667062184 | None | None | N |
| A/E | 0.9976 | likely_pathogenic | 0.9985 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/F | 0.9955 | likely_pathogenic | 0.9958 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/G | 0.2623 | likely_benign | 0.2218 | benign | -2.103 | Highly Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.57560003 | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/I | 0.9901 | likely_pathogenic | 0.9917 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/L | 0.9621 | likely_pathogenic | 0.9669 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/M | 0.9858 | likely_pathogenic | 0.9863 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/N | 0.9951 | likely_pathogenic | 0.9962 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/P | 0.8206 | likely_pathogenic | 0.8849 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.634185885 | None | None | N |
| A/Q | 0.9953 | likely_pathogenic | 0.9966 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/R | 0.996 | likely_pathogenic | 0.9975 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/S | 0.4907 | ambiguous | 0.5042 | ambiguous | -2.391 | Highly Destabilizing | 1.0 | D | 0.592 | neutral | D | 0.585906356 | None | None | N |
| A/T | 0.904 | likely_pathogenic | 0.9226 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.633782276 | None | None | N |
| A/V | 0.9334 | likely_pathogenic | 0.9441 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.628069241 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.885 | 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.