Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22982 | 69169;69170;69171 | chr2:178577391;178577390;178577389 | chr2:179442118;179442117;179442116 |
| N2AB | 21341 | 64246;64247;64248 | chr2:178577391;178577390;178577389 | chr2:179442118;179442117;179442116 |
| N2A | 20414 | 61465;61466;61467 | chr2:178577391;178577390;178577389 | chr2:179442118;179442117;179442116 |
| N2B | 13917 | 41974;41975;41976 | chr2:178577391;178577390;178577389 | chr2:179442118;179442117;179442116 |
| Novex-1 | 14042 | 42349;42350;42351 | chr2:178577391;178577390;178577389 | chr2:179442118;179442117;179442116 |
| Novex-2 | 14109 | 42550;42551;42552 | chr2:178577391;178577390;178577389 | chr2:179442118;179442117;179442116 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs372665902  |
-1.015 | 0.983 | N | 0.774 | 0.369 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| S/F | rs372665902 |
-1.015 | 0.983 | N | 0.774 | 0.369 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| S/F | rs372665902 |
-1.015 | 0.983 | N | 0.774 | 0.369 | None | gnomAD-4.0.0 | 1.48848E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.95006E-05 | 0 | 1.60236E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.112 | likely_benign | 0.1 | benign | -1.154 | Destabilizing | 0.025 | N | 0.295 | neutral | N | 0.456399676 | None | None | N |
| S/C | 0.1182 | likely_benign | 0.1072 | benign | -0.951 | Destabilizing | 0.995 | D | 0.753 | deleterious | N | 0.496913827 | None | None | N |
| S/D | 0.641 | likely_pathogenic | 0.5791 | pathogenic | -0.804 | Destabilizing | 0.957 | D | 0.635 | neutral | None | None | None | None | N |
| S/E | 0.5313 | ambiguous | 0.495 | ambiguous | -0.719 | Destabilizing | 0.916 | D | 0.579 | neutral | None | None | None | None | N |
| S/F | 0.2477 | likely_benign | 0.2063 | benign | -1.435 | Destabilizing | 0.983 | D | 0.774 | deleterious | N | 0.465401173 | None | None | N |
| S/G | 0.1556 | likely_benign | 0.1412 | benign | -1.433 | Destabilizing | 0.845 | D | 0.533 | neutral | None | None | None | None | N |
| S/H | 0.3845 | ambiguous | 0.3415 | ambiguous | -1.828 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| S/I | 0.2472 | likely_benign | 0.2171 | benign | -0.482 | Destabilizing | 0.975 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/K | 0.6503 | likely_pathogenic | 0.6049 | pathogenic | -0.408 | Destabilizing | 0.916 | D | 0.591 | neutral | None | None | None | None | N |
| S/L | 0.1212 | likely_benign | 0.1099 | benign | -0.482 | Destabilizing | 0.845 | D | 0.643 | neutral | None | None | None | None | N |
| S/M | 0.2066 | likely_benign | 0.1846 | benign | -0.277 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| S/N | 0.2208 | likely_benign | 0.1916 | benign | -0.724 | Destabilizing | 0.987 | D | 0.664 | neutral | None | None | None | None | N |
| S/P | 0.9869 | likely_pathogenic | 0.9825 | pathogenic | -0.676 | Destabilizing | 0.983 | D | 0.757 | deleterious | N | 0.496660337 | None | None | N |
| S/Q | 0.427 | ambiguous | 0.4023 | ambiguous | -0.797 | Destabilizing | 0.987 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/R | 0.602 | likely_pathogenic | 0.5615 | ambiguous | -0.474 | Destabilizing | 0.987 | D | 0.758 | deleterious | None | None | None | None | N |
| S/T | 0.0968 | likely_benign | 0.0872 | benign | -0.679 | Destabilizing | 0.892 | D | 0.532 | neutral | N | 0.441892382 | None | None | N |
| S/V | 0.2547 | likely_benign | 0.2183 | benign | -0.676 | Destabilizing | 0.95 | D | 0.702 | prob.neutral | None | None | None | None | N |
| S/W | 0.4137 | ambiguous | 0.3902 | ambiguous | -1.404 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| S/Y | 0.2386 | likely_benign | 0.2074 | benign | -1.073 | Destabilizing | 0.994 | D | 0.775 | deleterious | N | 0.466921326 | 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.