Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8539 | 25840;25841;25842 | chr2:178717119;178717118;178717117 | chr2:179581846;179581845;179581844 |
| N2AB | 8222 | 24889;24890;24891 | chr2:178717119;178717118;178717117 | chr2:179581846;179581845;179581844 |
| N2A | 7295 | 22108;22109;22110 | chr2:178717119;178717118;178717117 | chr2:179581846;179581845;179581844 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs550882549  |
-1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | gnomAD-2.1.1 | 2.21785E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.13E-05 | None | 1.93164E-03 | None | 0 | 7.83E-06 | 1.41004E-04 |
| C/F | rs550882549 |
-1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-03 | 0 |
| C/F | rs550882549 |
-1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/F | rs550882549 |
-1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | gnomAD-4.0.0 | 1.20885E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22985E-05 | None | 0 | 0 | 1.01753E-05 | 1.96703E-03 | 4.8043E-05 |
| C/Y | rs550882549 |
None | 1.0 | N | 0.905 | 0.545 | 0.815161448063 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| C/Y | rs550882549 |
None | 1.0 | N | 0.905 | 0.545 | 0.815161448063 | gnomAD-4.0.0 | 2.05364E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79968E-06 | 0 | 1.65761E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4843 | ambiguous | 0.5022 | ambiguous | -1.951 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | N |
| C/D | 0.9401 | likely_pathogenic | 0.9332 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/E | 0.9814 | likely_pathogenic | 0.982 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/F | 0.6247 | likely_pathogenic | 0.6925 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.53309683 | None | None | N |
| C/G | 0.3523 | ambiguous | 0.3547 | ambiguous | -2.3 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.4963283 | None | None | N |
| C/H | 0.9027 | likely_pathogenic | 0.9056 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| C/I | 0.7789 | likely_pathogenic | 0.8088 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| C/K | 0.9888 | likely_pathogenic | 0.9898 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| C/L | 0.799 | likely_pathogenic | 0.8175 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| C/M | 0.87 | likely_pathogenic | 0.8808 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| C/N | 0.8635 | likely_pathogenic | 0.8647 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| C/P | 0.9952 | likely_pathogenic | 0.9961 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/Q | 0.9418 | likely_pathogenic | 0.9457 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| C/R | 0.9089 | likely_pathogenic | 0.9166 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.528805731 | None | None | N |
| C/S | 0.2802 | likely_benign | 0.2927 | benign | -1.782 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.474181812 | None | None | N |
| C/T | 0.4776 | ambiguous | 0.4985 | ambiguous | -1.407 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| C/V | 0.6153 | likely_pathogenic | 0.6473 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| C/W | 0.916 | likely_pathogenic | 0.9231 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.491492908 | None | None | N |
| C/Y | 0.8473 | likely_pathogenic | 0.8567 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.496581789 | 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.