Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30623 | 92092;92093;92094 | chr2:178549855;178549854;178549853 | chr2:179414582;179414581;179414580 |
| N2AB | 28982 | 87169;87170;87171 | chr2:178549855;178549854;178549853 | chr2:179414582;179414581;179414580 |
| N2A | 28055 | 84388;84389;84390 | chr2:178549855;178549854;178549853 | chr2:179414582;179414581;179414580 |
| N2B | 21558 | 64897;64898;64899 | chr2:178549855;178549854;178549853 | chr2:179414582;179414581;179414580 |
| Novex-1 | 21683 | 65272;65273;65274 | chr2:178549855;178549854;178549853 | chr2:179414582;179414581;179414580 |
| Novex-2 | 21750 | 65473;65474;65475 | chr2:178549855;178549854;178549853 | chr2:179414582;179414581;179414580 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1194784611  |
-2.643 | 0.027 | N | 0.571 | 0.076 | 0.254761474806 | gnomAD-2.1.1 | 4.68E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.04E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1194784611 |
-2.643 | 0.027 | N | 0.571 | 0.076 | 0.254761474806 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1194784611 |
-2.643 | 0.027 | N | 0.571 | 0.076 | 0.254761474806 | gnomAD-4.0.0 | 3.81962E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.75432E-05 | None | 0 | 1.70707E-04 | 1.72408E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1947 | likely_benign | 0.2178 | benign | -2.251 | Highly Destabilizing | 0.027 | N | 0.571 | neutral | N | 0.427838155 | None | None | N |
| V/C | 0.8112 | likely_pathogenic | 0.813 | pathogenic | -1.907 | Destabilizing | 0.001 | N | 0.547 | neutral | None | None | None | None | N |
| V/D | 0.9396 | likely_pathogenic | 0.9607 | pathogenic | -2.982 | Highly Destabilizing | 0.38 | N | 0.766 | deleterious | None | None | None | None | N |
| V/E | 0.9089 | likely_pathogenic | 0.9316 | pathogenic | -2.795 | Highly Destabilizing | 0.317 | N | 0.75 | deleterious | N | 0.476400106 | None | None | N |
| V/F | 0.7347 | likely_pathogenic | 0.8407 | pathogenic | -1.316 | Destabilizing | 0.38 | N | 0.763 | deleterious | None | None | None | None | N |
| V/G | 0.5169 | ambiguous | 0.549 | ambiguous | -2.756 | Highly Destabilizing | 0.117 | N | 0.748 | deleterious | N | 0.476400106 | None | None | N |
| V/H | 0.9756 | likely_pathogenic | 0.9852 | pathogenic | -2.399 | Highly Destabilizing | 0.935 | D | 0.74 | deleterious | None | None | None | None | N |
| V/I | 0.1042 | likely_benign | 0.1356 | benign | -0.851 | Destabilizing | None | N | 0.242 | neutral | N | 0.475880031 | None | None | N |
| V/K | 0.9629 | likely_pathogenic | 0.9727 | pathogenic | -1.939 | Destabilizing | 0.38 | N | 0.746 | deleterious | None | None | None | None | N |
| V/L | 0.3994 | ambiguous | 0.5134 | ambiguous | -0.851 | Destabilizing | 0.009 | N | 0.525 | neutral | N | 0.476226748 | None | None | N |
| V/M | 0.4159 | ambiguous | 0.5288 | ambiguous | -0.985 | Destabilizing | 0.38 | N | 0.644 | neutral | None | None | None | None | N |
| V/N | 0.8333 | likely_pathogenic | 0.8868 | pathogenic | -2.196 | Highly Destabilizing | 0.555 | D | 0.765 | deleterious | None | None | None | None | N |
| V/P | 0.1723 | likely_benign | 0.1802 | benign | -1.292 | Destabilizing | None | N | 0.549 | neutral | None | None | None | None | N |
| V/Q | 0.9299 | likely_pathogenic | 0.9472 | pathogenic | -2.109 | Highly Destabilizing | 0.555 | D | 0.748 | deleterious | None | None | None | None | N |
| V/R | 0.9449 | likely_pathogenic | 0.9594 | pathogenic | -1.645 | Destabilizing | 0.555 | D | 0.766 | deleterious | None | None | None | None | N |
| V/S | 0.5691 | likely_pathogenic | 0.5977 | pathogenic | -2.78 | Highly Destabilizing | 0.149 | N | 0.726 | prob.delet. | None | None | None | None | N |
| V/T | 0.3649 | ambiguous | 0.3958 | ambiguous | -2.463 | Highly Destabilizing | 0.149 | N | 0.688 | prob.neutral | None | None | None | None | N |
| V/W | 0.9913 | likely_pathogenic | 0.9952 | pathogenic | -1.798 | Destabilizing | 0.935 | D | 0.749 | deleterious | None | None | None | None | N |
| V/Y | 0.9628 | likely_pathogenic | 0.9777 | pathogenic | -1.47 | Destabilizing | 0.555 | D | 0.759 | 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.