Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29162 | 87709;87710;87711 | chr2:178557870;178557869;178557868 | chr2:179422597;179422596;179422595 |
| N2AB | 27521 | 82786;82787;82788 | chr2:178557870;178557869;178557868 | chr2:179422597;179422596;179422595 |
| N2A | 26594 | 80005;80006;80007 | chr2:178557870;178557869;178557868 | chr2:179422597;179422596;179422595 |
| N2B | 20097 | 60514;60515;60516 | chr2:178557870;178557869;178557868 | chr2:179422597;179422596;179422595 |
| Novex-1 | 20222 | 60889;60890;60891 | chr2:178557870;178557869;178557868 | chr2:179422597;179422596;179422595 |
| Novex-2 | 20289 | 61090;61091;61092 | chr2:178557870;178557869;178557868 | chr2:179422597;179422596;179422595 |
| 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 | rs1396243813  |
None | 1.0 | D | 0.893 | 0.71 | 0.582670042736 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1396243813 |
None | 1.0 | D | 0.893 | 0.71 | 0.582670042736 | gnomAD-4.0.0 | 2.56203E-06 | None | None | None | None | N | None | 1.6913E-05 | 0 | None | 0 | 2.42354E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.85 | 0.621 | 0.530655398971 | gnomAD-4.0.0 | 2.7368E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8754E-05 | 0 | 2.69828E-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 | 0.7949 | likely_pathogenic | 0.8302 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.528668334 | None | None | N |
| P/C | 0.9754 | likely_pathogenic | 0.9773 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/D | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.995 | likely_pathogenic | 0.9961 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/G | 0.9815 | likely_pathogenic | 0.9847 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9937 | likely_pathogenic | 0.9951 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.561776199 | None | None | N |
| P/I | 0.9886 | likely_pathogenic | 0.9922 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/K | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/L | 0.9527 | likely_pathogenic | 0.965 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.548645466 | None | None | N |
| P/M | 0.9922 | likely_pathogenic | 0.9943 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.762 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/Q | 0.9887 | likely_pathogenic | 0.991 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/R | 0.9893 | likely_pathogenic | 0.9919 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.543418454 | None | None | N |
| P/S | 0.9466 | likely_pathogenic | 0.9599 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.505043897 | None | None | N |
| P/T | 0.9567 | likely_pathogenic | 0.9656 | pathogenic | -2.074 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.538138535 | None | None | N |
| P/V | 0.9579 | likely_pathogenic | 0.9689 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.903 | 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.