Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23645 | 71158;71159;71160 | chr2:178575199;178575198;178575197 | chr2:179439926;179439925;179439924 |
| N2AB | 22004 | 66235;66236;66237 | chr2:178575199;178575198;178575197 | chr2:179439926;179439925;179439924 |
| N2A | 21077 | 63454;63455;63456 | chr2:178575199;178575198;178575197 | chr2:179439926;179439925;179439924 |
| N2B | 14580 | 43963;43964;43965 | chr2:178575199;178575198;178575197 | chr2:179439926;179439925;179439924 |
| Novex-1 | 14705 | 44338;44339;44340 | chr2:178575199;178575198;178575197 | chr2:179439926;179439925;179439924 |
| Novex-2 | 14772 | 44539;44540;44541 | chr2:178575199;178575198;178575197 | chr2:179439926;179439925;179439924 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs757143081  |
-0.299 | 0.884 | N | 0.365 | 0.277 | 0.49590494691 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67392E-04 |
| A/V | rs757143081 |
-0.299 | 0.884 | N | 0.365 | 0.277 | 0.49590494691 | gnomAD-4.0.0 | 1.5938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02773E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.49 | ambiguous | 0.4669 | ambiguous | -0.894 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/D | 0.9406 | likely_pathogenic | 0.9419 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.511184233 | None | None | N |
| A/E | 0.8696 | likely_pathogenic | 0.8691 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/F | 0.7833 | likely_pathogenic | 0.7768 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| A/G | 0.2396 | likely_benign | 0.2596 | benign | -1.409 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.519170314 | None | None | N |
| A/H | 0.906 | likely_pathogenic | 0.9013 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| A/I | 0.5471 | ambiguous | 0.5274 | ambiguous | -0.475 | Destabilizing | 0.994 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/K | 0.8973 | likely_pathogenic | 0.8876 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/L | 0.5091 | ambiguous | 0.4948 | ambiguous | -0.475 | Destabilizing | 0.994 | D | 0.569 | neutral | None | None | None | None | N |
| A/M | 0.5603 | ambiguous | 0.5528 | ambiguous | -0.24 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| A/N | 0.8523 | likely_pathogenic | 0.851 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| A/P | 0.9644 | likely_pathogenic | 0.9599 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.510930744 | None | None | N |
| A/Q | 0.7676 | likely_pathogenic | 0.7547 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| A/R | 0.8309 | likely_pathogenic | 0.8076 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/S | 0.183 | likely_benign | 0.1857 | benign | -1.497 | Destabilizing | 0.998 | D | 0.611 | neutral | N | 0.487457664 | None | None | N |
| A/T | 0.172 | likely_benign | 0.1695 | benign | -1.429 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | D | 0.529077876 | None | None | N |
| A/V | 0.2317 | likely_benign | 0.2134 | benign | -0.651 | Destabilizing | 0.884 | D | 0.365 | neutral | N | 0.410071618 | None | None | N |
| A/W | 0.9688 | likely_pathogenic | 0.966 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| A/Y | 0.8941 | likely_pathogenic | 0.8903 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.659 | 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.