Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5293 | 16102;16103;16104 | chr2:178733416;178733415;178733414 | chr2:179598143;179598142;179598141 |
| N2AB | 4976 | 15151;15152;15153 | chr2:178733416;178733415;178733414 | chr2:179598143;179598142;179598141 |
| N2A | 4049 | 12370;12371;12372 | chr2:178733416;178733415;178733414 | chr2:179598143;179598142;179598141 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs930814645  |
-0.912 | 0.998 | N | 0.643 | 0.36 | 0.357313475932 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs930814645 |
-0.912 | 0.998 | N | 0.643 | 0.36 | 0.357313475932 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs930814645 |
-0.912 | 0.998 | N | 0.643 | 0.36 | 0.357313475932 | gnomAD-4.0.0 | 2.56208E-06 | None | None | None | None | N | None | 3.38123E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs761945485 |
-0.291 | 0.994 | N | 0.549 | 0.236 | 0.419957187557 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.89E-06 | 0 |
| K/R | rs761945485 |
-0.291 | 0.994 | N | 0.549 | 0.236 | 0.419957187557 | gnomAD-4.0.0 | 6.36491E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57476E-06 | 1.43279E-05 | 0 |
| K/T | None | None | 0.998 | N | 0.681 | 0.373 | 0.547512163748 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.319 | likely_benign | 0.4222 | ambiguous | -0.877 | Destabilizing | 0.992 | D | 0.601 | neutral | None | None | None | None | N |
| K/C | 0.6402 | likely_pathogenic | 0.7276 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/D | 0.7305 | likely_pathogenic | 0.7989 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/E | 0.215 | likely_benign | 0.2739 | benign | -0.612 | Destabilizing | 0.998 | D | 0.573 | neutral | D | 0.545344809 | None | None | N |
| K/F | 0.717 | likely_pathogenic | 0.8106 | pathogenic | -0.199 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/G | 0.5436 | ambiguous | 0.6491 | pathogenic | -1.315 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| K/H | 0.3061 | likely_benign | 0.3707 | ambiguous | -1.408 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| K/I | 0.2694 | likely_benign | 0.3467 | ambiguous | 0.314 | Stabilizing | 0.994 | D | 0.691 | prob.neutral | D | 0.577836826 | None | None | N |
| K/L | 0.3109 | likely_benign | 0.4095 | ambiguous | 0.314 | Stabilizing | 0.983 | D | 0.599 | neutral | None | None | None | None | N |
| K/M | 0.2213 | likely_benign | 0.2858 | benign | 0.015 | Stabilizing | 0.96 | D | 0.523 | neutral | None | None | None | None | N |
| K/N | 0.4985 | ambiguous | 0.5917 | pathogenic | -1.142 | Destabilizing | 0.999 | D | 0.659 | neutral | D | 0.624325237 | None | None | N |
| K/P | 0.9692 | likely_pathogenic | 0.9794 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1258 | likely_benign | 0.1565 | benign | -0.973 | Destabilizing | 0.998 | D | 0.643 | neutral | N | 0.505694657 | None | None | N |
| K/R | 0.0764 | likely_benign | 0.0837 | benign | -0.859 | Destabilizing | 0.994 | D | 0.549 | neutral | N | 0.506930374 | None | None | N |
| K/S | 0.4045 | ambiguous | 0.5178 | ambiguous | -1.68 | Destabilizing | 0.996 | D | 0.593 | neutral | None | None | None | None | N |
| K/T | 0.1696 | likely_benign | 0.2192 | benign | -1.246 | Destabilizing | 0.998 | D | 0.681 | prob.neutral | N | 0.500854958 | None | None | N |
| K/V | 0.2305 | likely_benign | 0.2937 | benign | -0.056 | Destabilizing | 0.983 | D | 0.633 | neutral | None | None | None | None | N |
| K/W | 0.7772 | likely_pathogenic | 0.8531 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/Y | 0.6407 | likely_pathogenic | 0.7252 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.702 | prob.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.