Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28849 | 86770;86771;86772 | chr2:178559587;178559586;178559585 | chr2:179424314;179424313;179424312 |
| N2AB | 27208 | 81847;81848;81849 | chr2:178559587;178559586;178559585 | chr2:179424314;179424313;179424312 |
| N2A | 26281 | 79066;79067;79068 | chr2:178559587;178559586;178559585 | chr2:179424314;179424313;179424312 |
| N2B | 19784 | 59575;59576;59577 | chr2:178559587;178559586;178559585 | chr2:179424314;179424313;179424312 |
| Novex-1 | 19909 | 59950;59951;59952 | chr2:178559587;178559586;178559585 | chr2:179424314;179424313;179424312 |
| Novex-2 | 19976 | 60151;60152;60153 | chr2:178559587;178559586;178559585 | chr2:179424314;179424313;179424312 |
| 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/A | rs765907573  |
-2.354 | 0.98 | D | 0.807 | 0.716 | 0.532263770911 | gnomAD-2.1.1 | 6.44E-05 | None | None | None | None | N | None | 0 | 4.63822E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs765907573 |
-2.354 | 0.98 | D | 0.807 | 0.716 | 0.532263770911 | gnomAD-3.1.2 | 7.88E-05 | None | None | None | None | N | None | 0 | 7.85958E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs765907573 |
-2.354 | 0.98 | D | 0.807 | 0.716 | 0.532263770911 | gnomAD-4.0.0 | 3.33069E-05 | None | None | None | None | N | None | 0 | 4.23671E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84398E-05 |
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 | 0.2778 | likely_benign | 0.2761 | benign | -2.183 | Highly Destabilizing | 0.98 | D | 0.807 | deleterious | D | 0.56377748 | None | None | N |
| P/C | 0.6151 | likely_pathogenic | 0.5979 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/D | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -3.12 | Highly Destabilizing | 0.996 | D | 0.871 | deleterious | None | None | None | None | N |
| P/E | 0.9897 | likely_pathogenic | 0.9898 | pathogenic | -2.931 | Highly Destabilizing | 0.993 | D | 0.881 | deleterious | None | None | None | None | N |
| P/F | 0.99 | likely_pathogenic | 0.988 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/G | 0.9371 | likely_pathogenic | 0.943 | pathogenic | -2.679 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.9826 | likely_pathogenic | 0.9822 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/I | 0.5964 | likely_pathogenic | 0.5572 | ambiguous | -0.803 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/K | 0.9941 | likely_pathogenic | 0.9939 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/L | 0.5891 | likely_pathogenic | 0.5548 | ambiguous | -0.803 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.605536757 | None | None | N |
| P/M | 0.8554 | likely_pathogenic | 0.8367 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/N | 0.9873 | likely_pathogenic | 0.9871 | pathogenic | -2.137 | Highly Destabilizing | 0.999 | D | 0.912 | deleterious | None | None | None | None | N |
| P/Q | 0.9664 | likely_pathogenic | 0.9665 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.596250171 | None | None | N |
| P/R | 0.9811 | likely_pathogenic | 0.9798 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.596451975 | None | None | N |
| P/S | 0.7889 | likely_pathogenic | 0.7922 | pathogenic | -2.697 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.596250171 | None | None | N |
| P/T | 0.5105 | ambiguous | 0.5215 | ambiguous | -2.376 | Highly Destabilizing | 0.998 | D | 0.857 | deleterious | D | 0.57671798 | None | None | N |
| P/V | 0.308 | likely_benign | 0.2778 | benign | -1.237 | Destabilizing | 0.896 | D | 0.765 | deleterious | None | None | None | None | N |
| P/W | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Y | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.931 | 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.