Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24817 | 74674;74675;74676 | chr2:178571683;178571682;178571681 | chr2:179436410;179436409;179436408 |
| N2AB | 23176 | 69751;69752;69753 | chr2:178571683;178571682;178571681 | chr2:179436410;179436409;179436408 |
| N2A | 22249 | 66970;66971;66972 | chr2:178571683;178571682;178571681 | chr2:179436410;179436409;179436408 |
| N2B | 15752 | 47479;47480;47481 | chr2:178571683;178571682;178571681 | chr2:179436410;179436409;179436408 |
| Novex-1 | 15877 | 47854;47855;47856 | chr2:178571683;178571682;178571681 | chr2:179436410;179436409;179436408 |
| Novex-2 | 15944 | 48055;48056;48057 | chr2:178571683;178571682;178571681 | chr2:179436410;179436409;179436408 |
| 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/R | rs565309903  |
-0.094 | 0.235 | N | 0.279 | 0.149 | 0.305730143919 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/R | rs565309903 |
-0.094 | 0.235 | N | 0.279 | 0.149 | 0.305730143919 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| K/R | rs565309903 |
-0.094 | 0.235 | N | 0.279 | 0.149 | 0.305730143919 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/R | rs565309903 |
-0.094 | 0.235 | N | 0.279 | 0.149 | 0.305730143919 | gnomAD-4.0.0 | 2.02974E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.69881E-05 | 3.40044E-05 |
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 | 0.2936 | likely_benign | 0.2949 | benign | -0.134 | Destabilizing | 0.983 | D | 0.611 | neutral | None | None | None | None | N |
| K/C | 0.4929 | ambiguous | 0.4819 | ambiguous | -0.128 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/D | 0.5569 | ambiguous | 0.5671 | pathogenic | 0.028 | Stabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| K/E | 0.1605 | likely_benign | 0.1625 | benign | 0.062 | Stabilizing | 0.977 | D | 0.537 | neutral | N | 0.460300077 | None | None | N |
| K/F | 0.594 | likely_pathogenic | 0.5923 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/G | 0.4889 | ambiguous | 0.4845 | ambiguous | -0.405 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| K/H | 0.2168 | likely_benign | 0.2128 | benign | -0.801 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/I | 0.1868 | likely_benign | 0.195 | benign | 0.523 | Stabilizing | 0.997 | D | 0.728 | prob.delet. | D | 0.525447633 | None | None | N |
| K/L | 0.2399 | likely_benign | 0.2428 | benign | 0.523 | Stabilizing | 0.995 | D | 0.647 | neutral | None | None | None | None | N |
| K/M | 0.169 | likely_benign | 0.1685 | benign | 0.412 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/N | 0.3489 | ambiguous | 0.363 | ambiguous | 0.14 | Stabilizing | 0.993 | D | 0.697 | prob.neutral | N | 0.482542218 | None | None | N |
| K/P | 0.8981 | likely_pathogenic | 0.8943 | pathogenic | 0.334 | Stabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| K/Q | 0.1099 | likely_benign | 0.1079 | benign | -0.034 | Destabilizing | 0.993 | D | 0.688 | prob.neutral | N | 0.494623294 | None | None | N |
| K/R | 0.075 | likely_benign | 0.0758 | benign | -0.221 | Destabilizing | 0.235 | N | 0.279 | neutral | N | 0.457547773 | None | None | N |
| K/S | 0.3548 | ambiguous | 0.3582 | ambiguous | -0.399 | Destabilizing | 0.983 | D | 0.603 | neutral | None | None | None | None | N |
| K/T | 0.1335 | likely_benign | 0.1346 | benign | -0.194 | Destabilizing | 0.997 | D | 0.738 | prob.delet. | N | 0.491697632 | None | None | N |
| K/V | 0.1751 | likely_benign | 0.1799 | benign | 0.334 | Stabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/W | 0.6711 | likely_pathogenic | 0.6605 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| K/Y | 0.4996 | ambiguous | 0.503 | ambiguous | 0.22 | Stabilizing | 0.999 | D | 0.734 | prob.delet. | 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.