Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31814 | 95665;95666;95667 | chr2:178545670;178545669;178545668 | chr2:179410397;179410396;179410395 |
| N2AB | 30173 | 90742;90743;90744 | chr2:178545670;178545669;178545668 | chr2:179410397;179410396;179410395 |
| N2A | 29246 | 87961;87962;87963 | chr2:178545670;178545669;178545668 | chr2:179410397;179410396;179410395 |
| N2B | 22749 | 68470;68471;68472 | chr2:178545670;178545669;178545668 | chr2:179410397;179410396;179410395 |
| Novex-1 | 22874 | 68845;68846;68847 | chr2:178545670;178545669;178545668 | chr2:179410397;179410396;179410395 |
| Novex-2 | 22941 | 69046;69047;69048 | chr2:178545670;178545669;178545668 | chr2:179410397;179410396;179410395 |
| 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 | rs370079368  |
-2.437 | 1.0 | N | 0.735 | 0.466 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/R | None | None | 1.0 | D | 0.866 | 0.528 | 0.544825121038 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86103E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.664 | likely_pathogenic | 0.6997 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.509147457 | None | None | N |
| P/C | 0.943 | likely_pathogenic | 0.955 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/E | 0.9952 | likely_pathogenic | 0.995 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/F | 0.9943 | likely_pathogenic | 0.9922 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/G | 0.9858 | likely_pathogenic | 0.9856 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/H | 0.9956 | likely_pathogenic | 0.9954 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.542255322 | None | None | N |
| P/I | 0.7236 | likely_pathogenic | 0.7278 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/L | 0.5211 | ambiguous | 0.5011 | ambiguous | -0.635 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.490494406 | None | None | N |
| P/M | 0.9212 | likely_pathogenic | 0.9166 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Q | 0.99 | likely_pathogenic | 0.9898 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9915 | likely_pathogenic | 0.9906 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.542255322 | None | None | N |
| P/S | 0.9764 | likely_pathogenic | 0.9807 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.530645527 | None | None | N |
| P/T | 0.8811 | likely_pathogenic | 0.8991 | pathogenic | -2.178 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.541748343 | None | None | N |
| P/V | 0.577 | likely_pathogenic | 0.5795 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/W | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/Y | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.88 | 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.