Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34300 | 103123;103124;103125 | chr2:178533717;178533716;178533715 | chr2:179398444;179398443;179398442 |
| N2AB | 32659 | 98200;98201;98202 | chr2:178533717;178533716;178533715 | chr2:179398444;179398443;179398442 |
| N2A | 31732 | 95419;95420;95421 | chr2:178533717;178533716;178533715 | chr2:179398444;179398443;179398442 |
| N2B | 25235 | 75928;75929;75930 | chr2:178533717;178533716;178533715 | chr2:179398444;179398443;179398442 |
| Novex-1 | 25360 | 76303;76304;76305 | chr2:178533717;178533716;178533715 | chr2:179398444;179398443;179398442 |
| Novex-2 | 25427 | 76504;76505;76506 | chr2:178533717;178533716;178533715 | chr2:179398444;179398443;179398442 |
| 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/L | rs186977868  |
-0.203 | 1.0 | D | 0.723 | 0.517 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67056E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs186977868 |
-0.203 | 1.0 | D | 0.723 | 0.517 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs186977868 |
-0.203 | 1.0 | D | 0.723 | 0.517 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| P/L | rs186977868 |
-0.203 | 1.0 | D | 0.723 | 0.517 | None | gnomAD-4.0.0 | 5.12327E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.69885E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.729 | 0.408 | 0.35139820857 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.717 | 0.445 | 0.560491779295 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0842 | likely_benign | 0.0728 | benign | -0.545 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.521629042 | None | None | N |
| P/C | 0.5703 | likely_pathogenic | 0.5829 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| P/D | 0.505 | ambiguous | 0.4208 | ambiguous | -0.284 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| P/E | 0.2831 | likely_benign | 0.2369 | benign | -0.366 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/F | 0.5219 | ambiguous | 0.4996 | ambiguous | -0.656 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| P/G | 0.4086 | ambiguous | 0.3564 | ambiguous | -0.699 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| P/H | 0.2227 | likely_benign | 0.2044 | benign | -0.151 | Destabilizing | 1.0 | D | 0.604 | neutral | None | None | None | None | N |
| P/I | 0.311 | likely_benign | 0.2769 | benign | -0.274 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/K | 0.288 | likely_benign | 0.2424 | benign | -0.464 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| P/L | 0.1221 | likely_benign | 0.1194 | benign | -0.274 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.522842551 | None | None | N |
| P/M | 0.3458 | ambiguous | 0.3183 | benign | -0.508 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| P/N | 0.431 | ambiguous | 0.3603 | ambiguous | -0.258 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| P/Q | 0.1726 | likely_benign | 0.1484 | benign | -0.445 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.53169132 | None | None | N |
| P/R | 0.171 | likely_benign | 0.154 | benign | 0.018 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.515588504 | None | None | N |
| P/S | 0.1711 | likely_benign | 0.1448 | benign | -0.646 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.487417681 | None | None | N |
| P/T | 0.1244 | likely_benign | 0.1078 | benign | -0.618 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.504294075 | None | None | N |
| P/V | 0.2215 | likely_benign | 0.1969 | benign | -0.331 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| P/W | 0.6359 | likely_pathogenic | 0.6338 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| P/Y | 0.4426 | ambiguous | 0.4077 | ambiguous | -0.441 | Destabilizing | 1.0 | D | 0.647 | 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.