Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29140 | 87643;87644;87645 | chr2:178557936;178557935;178557934 | chr2:179422663;179422662;179422661 |
| N2AB | 27499 | 82720;82721;82722 | chr2:178557936;178557935;178557934 | chr2:179422663;179422662;179422661 |
| N2A | 26572 | 79939;79940;79941 | chr2:178557936;178557935;178557934 | chr2:179422663;179422662;179422661 |
| N2B | 20075 | 60448;60449;60450 | chr2:178557936;178557935;178557934 | chr2:179422663;179422662;179422661 |
| Novex-1 | 20200 | 60823;60824;60825 | chr2:178557936;178557935;178557934 | chr2:179422663;179422662;179422661 |
| Novex-2 | 20267 | 61024;61025;61026 | chr2:178557936;178557935;178557934 | chr2:179422663;179422662;179422661 |
| 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 | rs1483374179  |
-0.865 | 0.999 | N | 0.832 | 0.419 | 0.674589302959 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1483374179 |
-0.865 | 0.999 | N | 0.832 | 0.419 | 0.674589302959 | gnomAD-4.0.0 | 1.59303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 0.992 | N | 0.776 | 0.375 | 0.372087925617 | gnomAD-4.0.0 | 1.36909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 1.15937E-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 | 0.1002 | likely_benign | 0.0999 | benign | -1.553 | Destabilizing | 0.767 | D | 0.385 | neutral | N | 0.478784263 | None | None | N |
| P/C | 0.4988 | ambiguous | 0.5113 | ambiguous | -1.181 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/D | 0.8547 | likely_pathogenic | 0.8468 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/E | 0.4902 | ambiguous | 0.4932 | ambiguous | -1.851 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/F | 0.5561 | ambiguous | 0.5475 | ambiguous | -1.41 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/G | 0.5986 | likely_pathogenic | 0.6108 | pathogenic | -1.827 | Destabilizing | 0.997 | D | 0.801 | deleterious | None | None | None | None | N |
| P/H | 0.4022 | ambiguous | 0.3745 | ambiguous | -1.3 | Destabilizing | 1.0 | D | 0.872 | deleterious | N | 0.517811645 | None | None | N |
| P/I | 0.2195 | likely_benign | 0.2044 | benign | -0.902 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.4146 | ambiguous | 0.3702 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/L | 0.1499 | likely_benign | 0.141 | benign | -0.902 | Destabilizing | 0.999 | D | 0.832 | deleterious | N | 0.517558156 | None | None | N |
| P/M | 0.3028 | likely_benign | 0.288 | benign | -0.687 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/N | 0.6515 | likely_pathogenic | 0.6474 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/Q | 0.2508 | likely_benign | 0.245 | benign | -1.303 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/R | 0.3329 | likely_benign | 0.2933 | benign | -0.607 | Destabilizing | 0.999 | D | 0.883 | deleterious | N | 0.496376028 | None | None | N |
| P/S | 0.2499 | likely_benign | 0.248 | benign | -1.485 | Destabilizing | 0.992 | D | 0.776 | deleterious | N | 0.495615559 | None | None | N |
| P/T | 0.2031 | likely_benign | 0.1853 | benign | -1.418 | Destabilizing | 0.999 | D | 0.817 | deleterious | N | 0.500921931 | None | None | N |
| P/V | 0.1777 | likely_benign | 0.1643 | benign | -1.087 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| P/W | 0.8426 | likely_pathogenic | 0.8379 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/Y | 0.607 | likely_pathogenic | 0.6104 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.882 | 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.