Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28741 | 86446;86447;86448 | chr2:178559911;178559910;178559909 | chr2:179424638;179424637;179424636 |
| N2AB | 27100 | 81523;81524;81525 | chr2:178559911;178559910;178559909 | chr2:179424638;179424637;179424636 |
| N2A | 26173 | 78742;78743;78744 | chr2:178559911;178559910;178559909 | chr2:179424638;179424637;179424636 |
| N2B | 19676 | 59251;59252;59253 | chr2:178559911;178559910;178559909 | chr2:179424638;179424637;179424636 |
| Novex-1 | 19801 | 59626;59627;59628 | chr2:178559911;178559910;178559909 | chr2:179424638;179424637;179424636 |
| Novex-2 | 19868 | 59827;59828;59829 | chr2:178559911;178559910;178559909 | chr2:179424638;179424637;179424636 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1167302737  |
0.474 | 0.986 | N | 0.737 | 0.229 | 0.216624796971 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1167302737 |
0.474 | 0.986 | N | 0.737 | 0.229 | 0.216624796971 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1316 | likely_benign | 0.1477 | benign | -0.268 | Destabilizing | 0.952 | D | 0.683 | prob.neutral | N | 0.494887079 | None | None | N |
| D/C | 0.4908 | ambiguous | 0.5654 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/E | 0.09 | likely_benign | 0.1056 | benign | -0.252 | Destabilizing | 0.058 | N | 0.197 | neutral | N | 0.443996899 | None | None | N |
| D/F | 0.3997 | ambiguous | 0.4289 | ambiguous | -0.094 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/G | 0.1732 | likely_benign | 0.1985 | benign | -0.474 | Destabilizing | 0.952 | D | 0.733 | deleterious | N | 0.510299249 | None | None | N |
| D/H | 0.2635 | likely_benign | 0.2869 | benign | 0.139 | Stabilizing | 0.998 | D | 0.703 | prob.delet. | N | 0.501342189 | None | None | N |
| D/I | 0.1931 | likely_benign | 0.2175 | benign | 0.23 | Stabilizing | 0.995 | D | 0.769 | deleterious | None | None | None | None | N |
| D/K | 0.2984 | likely_benign | 0.3251 | benign | 0.215 | Stabilizing | 0.979 | D | 0.754 | deleterious | None | None | None | None | N |
| D/L | 0.2186 | likely_benign | 0.2461 | benign | 0.23 | Stabilizing | 0.989 | D | 0.753 | deleterious | None | None | None | None | N |
| D/M | 0.3829 | ambiguous | 0.4292 | ambiguous | 0.273 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/N | 0.1106 | likely_benign | 0.1195 | benign | -0.125 | Destabilizing | 0.986 | D | 0.737 | deleterious | N | 0.496215231 | None | None | N |
| D/P | 0.4088 | ambiguous | 0.4873 | ambiguous | 0.086 | Stabilizing | 0.995 | D | 0.776 | deleterious | None | None | None | None | N |
| D/Q | 0.2325 | likely_benign | 0.2695 | benign | -0.066 | Destabilizing | 0.979 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/R | 0.3683 | ambiguous | 0.4055 | ambiguous | 0.453 | Stabilizing | 0.989 | D | 0.756 | deleterious | None | None | None | None | N |
| D/S | 0.1111 | likely_benign | 0.1244 | benign | -0.24 | Destabilizing | 0.963 | D | 0.693 | prob.delet. | None | None | None | None | N |
| D/T | 0.1718 | likely_benign | 0.1959 | benign | -0.074 | Destabilizing | 0.989 | D | 0.738 | deleterious | None | None | None | None | N |
| D/V | 0.1245 | likely_benign | 0.142 | benign | 0.086 | Stabilizing | 0.993 | D | 0.757 | deleterious | N | 0.499215463 | None | None | N |
| D/W | 0.8243 | likely_pathogenic | 0.8558 | pathogenic | 0.056 | Stabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| D/Y | 0.2001 | likely_benign | 0.2067 | benign | 0.143 | Stabilizing | 0.999 | D | 0.747 | deleterious | N | 0.50058172 | 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.