Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26996 | 81211;81212;81213 | chr2:178565146;178565145;178565144 | chr2:179429873;179429872;179429871 |
| N2AB | 25355 | 76288;76289;76290 | chr2:178565146;178565145;178565144 | chr2:179429873;179429872;179429871 |
| N2A | 24428 | 73507;73508;73509 | chr2:178565146;178565145;178565144 | chr2:179429873;179429872;179429871 |
| N2B | 17931 | 54016;54017;54018 | chr2:178565146;178565145;178565144 | chr2:179429873;179429872;179429871 |
| Novex-1 | 18056 | 54391;54392;54393 | chr2:178565146;178565145;178565144 | chr2:179429873;179429872;179429871 |
| Novex-2 | 18123 | 54592;54593;54594 | chr2:178565146;178565145;178565144 | chr2:179429873;179429872;179429871 |
| 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/H | None | None | 1.0 | D | 0.859 | 0.575 | 0.722947621725 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85986E-06 | 0 | 0 |
| P/S | rs561588883  |
-2.188 | 0.987 | N | 0.757 | 0.385 | 0.384252928164 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/S | rs561588883 |
-2.188 | 0.987 | N | 0.757 | 0.385 | 0.384252928164 | gnomAD-4.0.0 | 3.18461E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85995E-06 | 0 | 3.02535E-05 |
| P/T | rs561588883 |
-1.942 | 0.993 | N | 0.78 | 0.447 | 0.566228512615 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| P/T | rs561588883 |
-1.942 | 0.993 | N | 0.78 | 0.447 | 0.566228512615 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| P/T | rs561588883 |
-1.942 | 0.993 | N | 0.78 | 0.447 | 0.566228512615 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/T | rs561588883 |
-1.942 | 0.993 | N | 0.78 | 0.447 | 0.566228512615 | gnomAD-4.0.0 | 6.56866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 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 | 0.0976 | likely_benign | 0.0817 | benign | -1.796 | Destabilizing | 0.117 | N | 0.38 | neutral | N | 0.514731994 | None | None | N |
| P/C | 0.6412 | likely_pathogenic | 0.5884 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/D | 0.7485 | likely_pathogenic | 0.6995 | pathogenic | -2.121 | Highly Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.396 | ambiguous | 0.3712 | ambiguous | -2.005 | Highly Destabilizing | 0.995 | D | 0.818 | deleterious | None | None | None | None | N |
| P/F | 0.7233 | likely_pathogenic | 0.6372 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/G | 0.5566 | ambiguous | 0.4639 | ambiguous | -2.213 | Highly Destabilizing | 0.966 | D | 0.752 | deleterious | None | None | None | None | N |
| P/H | 0.4147 | ambiguous | 0.3609 | ambiguous | -1.762 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.523424414 | None | None | N |
| P/I | 0.3066 | likely_benign | 0.2708 | benign | -0.688 | Destabilizing | 0.995 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.4091 | ambiguous | 0.3968 | ambiguous | -1.638 | Destabilizing | 0.995 | D | 0.828 | deleterious | None | None | None | None | N |
| P/L | 0.1596 | likely_benign | 0.138 | benign | -0.688 | Destabilizing | 0.993 | D | 0.833 | deleterious | D | 0.522917435 | None | None | N |
| P/M | 0.3036 | likely_benign | 0.2562 | benign | -0.525 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/N | 0.5473 | ambiguous | 0.4646 | ambiguous | -1.692 | Destabilizing | 0.998 | D | 0.873 | deleterious | None | None | None | None | N |
| P/Q | 0.2409 | likely_benign | 0.2086 | benign | -1.711 | Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | N |
| P/R | 0.3802 | ambiguous | 0.357 | ambiguous | -1.214 | Destabilizing | 0.997 | D | 0.871 | deleterious | N | 0.497811741 | None | None | N |
| P/S | 0.2242 | likely_benign | 0.185 | benign | -2.21 | Highly Destabilizing | 0.987 | D | 0.757 | deleterious | N | 0.492785311 | None | None | N |
| P/T | 0.1591 | likely_benign | 0.1381 | benign | -1.968 | Destabilizing | 0.993 | D | 0.78 | deleterious | N | 0.506040947 | None | None | N |
| P/V | 0.2177 | likely_benign | 0.1871 | benign | -1.026 | Destabilizing | 0.99 | D | 0.781 | deleterious | None | None | None | None | N |
| P/W | 0.8969 | likely_pathogenic | 0.8588 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.6988 | likely_pathogenic | 0.6288 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.869 | 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.