Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16355 | 49288;49289;49290 | chr2:178614334;178614333;178614332 | chr2:179479061;179479060;179479059 |
| N2AB | 14714 | 44365;44366;44367 | chr2:178614334;178614333;178614332 | chr2:179479061;179479060;179479059 |
| N2A | 13787 | 41584;41585;41586 | chr2:178614334;178614333;178614332 | chr2:179479061;179479060;179479059 |
| N2B | 7290 | 22093;22094;22095 | chr2:178614334;178614333;178614332 | chr2:179479061;179479060;179479059 |
| Novex-1 | 7415 | 22468;22469;22470 | chr2:178614334;178614333;178614332 | chr2:179479061;179479060;179479059 |
| Novex-2 | 7482 | 22669;22670;22671 | chr2:178614334;178614333;178614332 | chr2:179479061;179479060;179479059 |
| 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/S | rs762930123  |
-3.06 | 1.0 | D | 0.876 | 0.785 | 0.669445274559 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| P/S | rs762930123 |
-3.06 | 1.0 | D | 0.876 | 0.785 | 0.669445274559 | gnomAD-4.0.0 | 2.73867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59943E-06 | 0 | 0 |
| P/T | rs762930123 |
None | 1.0 | D | 0.867 | 0.781 | 0.69687350262 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs762930123 |
None | 1.0 | D | 0.867 | 0.781 | 0.69687350262 | gnomAD-4.0.0 | 1.86064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54415E-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 | 0.7144 | likely_pathogenic | 0.6197 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.700589997 | None | None | N |
| P/C | 0.9545 | likely_pathogenic | 0.9275 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -3.266 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9977 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/G | 0.995 | likely_pathogenic | 0.9916 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.9978 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/I | 0.883 | likely_pathogenic | 0.8385 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9986 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/L | 0.9177 | likely_pathogenic | 0.8794 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.768975718 | None | None | N |
| P/M | 0.9848 | likely_pathogenic | 0.977 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.9976 | likely_pathogenic | 0.9954 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.74187069 | None | None | N |
| P/R | 0.998 | likely_pathogenic | 0.9957 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.788734305 | None | None | N |
| P/S | 0.9826 | likely_pathogenic | 0.9714 | pathogenic | -2.815 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.768975718 | None | None | N |
| P/T | 0.9309 | likely_pathogenic | 0.8969 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.75320428 | None | None | N |
| P/V | 0.6212 | likely_pathogenic | 0.5429 | ambiguous | -1.067 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.916 | 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.