Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19012 | 57259;57260;57261 | chr2:178598583;178598582;178598581 | chr2:179463310;179463309;179463308 |
| N2AB | 17371 | 52336;52337;52338 | chr2:178598583;178598582;178598581 | chr2:179463310;179463309;179463308 |
| N2A | 16444 | 49555;49556;49557 | chr2:178598583;178598582;178598581 | chr2:179463310;179463309;179463308 |
| N2B | 9947 | 30064;30065;30066 | chr2:178598583;178598582;178598581 | chr2:179463310;179463309;179463308 |
| Novex-1 | 10072 | 30439;30440;30441 | chr2:178598583;178598582;178598581 | chr2:179463310;179463309;179463308 |
| Novex-2 | 10139 | 30640;30641;30642 | chr2:178598583;178598582;178598581 | chr2:179463310;179463309;179463308 |
| 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/L | rs777291480  |
-0.234 | 1.0 | D | 0.901 | 0.535 | 0.820922146493 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs777291480 |
-0.234 | 1.0 | D | 0.901 | 0.535 | 0.820922146493 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs777291480 |
-0.234 | 1.0 | D | 0.901 | 0.535 | 0.820922146493 | gnomAD-4.0.0 | 1.24346E-06 | None | None | None | None | N | None | 1.34311E-05 | 0 | None | 0 | 2.24135E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | None | -1.74 | 1.0 | D | 0.828 | 0.586 | 0.715663011305 | gnomAD-2.1.1 | 1.09E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 1.42735E-04 |
| P/Q | None | -1.74 | 1.0 | D | 0.828 | 0.586 | 0.715663011305 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/Q | None | -1.74 | 1.0 | D | 0.828 | 0.586 | 0.715663011305 | gnomAD-4.0.0 | 8.70425E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01817E-05 | 0 | 3.21182E-05 |
| P/R | rs777291480 |
-1.379 | 1.0 | N | 0.894 | 0.568 | 0.715137123678 | gnomAD-2.1.1 | 1.64E-05 | None | None | None | None | N | None | 0 | 3.01E-05 | None | 0 | 1.15287E-04 | None | 0 | None | 0 | 8.98E-06 | 0 |
| P/R | rs777291480 |
-1.379 | 1.0 | N | 0.894 | 0.568 | 0.715137123678 | gnomAD-4.0.0 | 9.61228E-06 | None | None | None | None | N | None | 0 | 1.14884E-04 | None | 0 | 1.01358E-04 | None | 0 | 0 | 1.80079E-06 | 1.18315E-05 | 3.32325E-05 |
| P/S | None | None | 1.0 | N | 0.842 | 0.472 | 0.445811967706 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 | 0.8526 | likely_pathogenic | 0.825 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.508259901 | None | None | N |
| P/C | 0.9798 | likely_pathogenic | 0.9751 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/G | 0.989 | likely_pathogenic | 0.9874 | pathogenic | -2.457 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9935 | likely_pathogenic | 0.9918 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/I | 0.9899 | likely_pathogenic | 0.9873 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.9632 | likely_pathogenic | 0.9528 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.538276666 | None | None | N |
| P/M | 0.9952 | likely_pathogenic | 0.9943 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/N | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -1.831 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.9938 | likely_pathogenic | 0.9913 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.551407398 | None | None | N |
| P/R | 0.9918 | likely_pathogenic | 0.9892 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.894 | deleterious | N | 0.519224586 | None | None | N |
| P/S | 0.971 | likely_pathogenic | 0.9618 | pathogenic | -2.402 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.49121883 | None | None | N |
| P/T | 0.9688 | likely_pathogenic | 0.966 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.521186369 | None | None | N |
| P/V | 0.9667 | likely_pathogenic | 0.9595 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/Y | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.899 | 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.