Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26804 | 80635;80636;80637 | chr2:178565722;178565721;178565720 | chr2:179430449;179430448;179430447 |
| N2AB | 25163 | 75712;75713;75714 | chr2:178565722;178565721;178565720 | chr2:179430449;179430448;179430447 |
| N2A | 24236 | 72931;72932;72933 | chr2:178565722;178565721;178565720 | chr2:179430449;179430448;179430447 |
| N2B | 17739 | 53440;53441;53442 | chr2:178565722;178565721;178565720 | chr2:179430449;179430448;179430447 |
| Novex-1 | 17864 | 53815;53816;53817 | chr2:178565722;178565721;178565720 | chr2:179430449;179430448;179430447 |
| Novex-2 | 17931 | 54016;54017;54018 | chr2:178565722;178565721;178565720 | chr2:179430449;179430448;179430447 |
| 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/R | rs1299301898  |
-1.24 | 1.0 | D | 0.883 | 0.762 | 0.664580999671 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1299301898 |
-1.24 | 1.0 | D | 0.883 | 0.762 | 0.664580999671 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.834 | 0.738 | 0.604738496201 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8575 | likely_pathogenic | 0.8173 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.582061356 | None | None | N |
| P/C | 0.988 | likely_pathogenic | 0.9849 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/D | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | -2.345 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/E | 0.9963 | likely_pathogenic | 0.9945 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/G | 0.9836 | likely_pathogenic | 0.9789 | pathogenic | -2.367 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.9955 | likely_pathogenic | 0.9936 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.642333084 | None | None | N |
| P/I | 0.9925 | likely_pathogenic | 0.9894 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.9668 | likely_pathogenic | 0.9521 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.609285341 | None | None | N |
| P/M | 0.9919 | likely_pathogenic | 0.9891 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.9968 | likely_pathogenic | 0.996 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Q | 0.9937 | likely_pathogenic | 0.9909 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/R | 0.994 | likely_pathogenic | 0.9915 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.616593168 | None | None | N |
| P/S | 0.969 | likely_pathogenic | 0.9583 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.559369941 | None | None | N |
| P/T | 0.9614 | likely_pathogenic | 0.9447 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.600372003 | None | None | N |
| P/V | 0.9754 | likely_pathogenic | 0.9668 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.883 | 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.