Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3361 | 10306;10307;10308 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
| N2AB | 3361 | 10306;10307;10308 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
| N2A | 3361 | 10306;10307;10308 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
| N2B | 3315 | 10168;10169;10170 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
| Novex-1 | 3315 | 10168;10169;10170 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
| Novex-2 | 3315 | 10168;10169;10170 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
| Novex-3 | 3361 | 10306;10307;10308 | chr2:178764210;178764209;178764208 | chr2:179628937;179628936;179628935 |
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 | rs879249930  |
-0.361 | 0.565 | N | 0.48 | 0.394 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs879249930 |
-0.361 | 0.565 | N | 0.48 | 0.394 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs879249930 |
-0.361 | 0.565 | N | 0.48 | 0.394 | None | gnomAD-4.0.0 | 2.56124E-06 | None | None | None | None | N | None | 0 | 1.69457E-05 | None | 0 | 2.42436E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.565 | N | 0.376 | 0.22 | 0.263140351381 | gnomAD-4.0.0 | 1.59061E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0693 | likely_benign | 0.0703 | benign | -1.272 | Destabilizing | 0.008 | N | 0.222 | neutral | N | 0.482807625 | None | None | N |
| P/C | 0.5978 | likely_pathogenic | 0.4977 | ambiguous | -0.82 | Destabilizing | 0.989 | D | 0.568 | neutral | None | None | None | None | N |
| P/D | 0.515 | ambiguous | 0.5366 | ambiguous | -1.278 | Destabilizing | 0.775 | D | 0.399 | neutral | None | None | None | None | N |
| P/E | 0.3133 | likely_benign | 0.3288 | benign | -1.362 | Destabilizing | 0.775 | D | 0.401 | neutral | None | None | None | None | N |
| P/F | 0.4561 | ambiguous | 0.4404 | ambiguous | -1.271 | Destabilizing | 0.961 | D | 0.573 | neutral | None | None | None | None | N |
| P/G | 0.3124 | likely_benign | 0.3181 | benign | -1.488 | Destabilizing | 0.633 | D | 0.445 | neutral | None | None | None | None | N |
| P/H | 0.1959 | likely_benign | 0.1892 | benign | -0.956 | Destabilizing | 0.989 | D | 0.529 | neutral | None | None | None | None | N |
| P/I | 0.2937 | likely_benign | 0.2787 | benign | -0.808 | Destabilizing | 0.923 | D | 0.553 | neutral | None | None | None | None | N |
| P/K | 0.2585 | likely_benign | 0.2776 | benign | -1.0 | Destabilizing | 0.633 | D | 0.404 | neutral | None | None | None | None | N |
| P/L | 0.1176 | likely_benign | 0.1098 | benign | -0.808 | Destabilizing | 0.565 | D | 0.48 | neutral | N | 0.499012071 | None | None | N |
| P/M | 0.3071 | likely_benign | 0.275 | benign | -0.507 | Destabilizing | 0.996 | D | 0.531 | neutral | None | None | None | None | N |
| P/N | 0.3444 | ambiguous | 0.3539 | ambiguous | -0.696 | Destabilizing | 0.858 | D | 0.454 | neutral | None | None | None | None | N |
| P/Q | 0.1581 | likely_benign | 0.164 | benign | -1.02 | Destabilizing | 0.901 | D | 0.445 | neutral | N | 0.496602579 | None | None | N |
| P/R | 0.1557 | likely_benign | 0.1566 | benign | -0.334 | Destabilizing | 0.901 | D | 0.518 | neutral | N | 0.466519917 | None | None | N |
| P/S | 0.1141 | likely_benign | 0.1161 | benign | -1.104 | Destabilizing | 0.014 | N | 0.207 | neutral | N | 0.387667475 | None | None | N |
| P/T | 0.098 | likely_benign | 0.0949 | benign | -1.098 | Destabilizing | 0.565 | D | 0.376 | neutral | N | 0.451855432 | None | None | N |
| P/V | 0.2055 | likely_benign | 0.1908 | benign | -0.928 | Destabilizing | 0.633 | D | 0.445 | neutral | None | None | None | None | N |
| P/W | 0.6317 | likely_pathogenic | 0.5902 | pathogenic | -1.332 | Destabilizing | 0.996 | D | 0.683 | prob.neutral | None | None | None | None | N |
| P/Y | 0.4229 | ambiguous | 0.4199 | ambiguous | -1.076 | Destabilizing | 0.987 | D | 0.573 | neutral | 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.